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3107 lines
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255 KiB
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<h1 class="res_name"><a href="/gene/">Gene</a></h1>
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<h2 class="res_tagline">Genes and mapped phenotypes</h2>
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<div class="search"><div class="search_form"><label for="database" class="offscreen_noflow">Search database</label><select id="database"><optgroup label="Recent"><option value="pubmed">PubMed</option><option value="books">Books</option><option value="medgen">MedGen</option><option value="clinvar" class="last">ClinVar</option></optgroup><optgroup label="All"><option value="gquery">All Databases</option><option value="assembly" data-ac_dict="assembly">Assembly</option><option value="biocollections">Biocollections</option><option value="bioproject">BioProject</option><option value="biosample">BioSample</option><option value="books">Books</option><option value="clinvar">ClinVar</option><option value="cdd">Conserved Domains</option><option value="gap">dbGaP</option><option value="dbvar">dbVar</option><option value="gene" selected="selected" data-ac_dict="gene">Gene</option><option value="genome" data-ac_dict="genome">Genome</option><option value="gds">GEO DataSets</option><option value="geoprofiles">GEO Profiles</option><option value="gtr">GTR</option><option value="ipg">Identical Protein Groups</option><option value="medgen">MedGen</option><option value="mesh">MeSH</option><option value="nlmcatalog">NLM Catalog</option><option value="nuccore" data-ac_dict="nuccore">Nucleotide</option><option value="omim">OMIM</option><option value="pmc">PMC</option><option value="protein" data-ac_dict="protein">Protein</option><option value="proteinclusters">Protein Clusters</option><option value="protfam">Protein Family Models</option><option value="pcassay">PubChem BioAssay</option><option value="pccompound">PubChem Compound</option><option value="pcsubstance">PubChem Substance</option><option value="pubmed">PubMed</option><option value="snp">SNP</option><option value="sra">SRA</option><option value="structure">Structure</option><option value="taxonomy">Taxonomy</option><option value="toolkit">ToolKit</option><option value="toolkitall">ToolKitAll</option><option value="toolkitbookgh">ToolKitBookgh</option></optgroup></select><div class="nowrap"><label for="term" class="offscreen_noflow" accesskey="/">Search term</label><div class="nowrap"><input type="text" name="term" id="term" title="Search Gene. Use up and down arrows to choose an item from the autocomplete." value="" class="jig-ncbiclearbutton jig-ncbiautocomplete" data-jigconfig="dictionary:'gene',disableUrl:'NcbiSearchBarAutoComplCtrl'" autocomplete="off" data-sbconfig="ds:'no',pjs:'yes',afs:'yes'" /></div><button id="search" type="submit" class="button_search nowrap" cmd="go">Search</button></div></div><ul class="searchlinks inline_list"><set></set><li><a href="/gene/advanced">Advanced</a></li><li class="help"><a id="help" class="jig-ncbihelpwindow" target="ncbihelp" name="help" href="/books/NBK3841/">Help</a></li></ul></div>
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<h2 class="offscreen_noflow">Result Filters</h2>
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<div class="facet_cont" data-db="gene" data-default_grps="fg_gene-sources,fg_categories,fg_sequence-content,fg_status" data-sd="db:'gene',op:'select',term:'',qk:'35041',linkname:'',idsfromresult:'79648',extra:''"><ul class="facet" data-filter_id="gene-sources" id="_gene-sources"><li class="filter_grp "><div class="clearfix"><h3>Gene sources</h3><a href="#" data-value_id="" class="clear clear_hide">Clear</a></div><ul><li class="fil_val"><a href="#" data-value_id="genomic">Genomic</a></li></ul></li></ul><ul class="facet" data-filter_id="categories" id="_categories"><li class="filter_grp "><div class="clearfix"><h3>Categories</h3><a href="#" data-value_id="" class="clear clear_hide">Clear</a></div><ul><li class="fil_val"><a href="#" data-value_id="alt-splicing">Alternatively spliced</a></li><li class="fil_val"><a href="#" data-value_id="annotated-genes">Annotated genes</a></li><li class="fil_val"><a href="#" data-value_id="gene-type-protein-coding">Protein-coding</a></li></ul></li></ul><ul class="facet" data-filter_id="sequence-content" id="_sequence-content"><li class="filter_grp "><div class="clearfix"><h3>Sequence content</h3><a href="#" data-value_id="" class="clear clear_hide">Clear</a></div><ul><li class="fil_val"><a href="#" data-value_id="seq-ccds">CCDS</a></li><li class="fil_val"><a href="#" data-value_id="seq-ensembl">Ensembl</a></li><li class="fil_val"><a href="#" data-value_id="refseq">RefSeq</a></li><li class="fil_val"><a href="#" data-value_id="seq-refseqgene">RefSeqGene</a></li></ul></li></ul><ul class="facet" data-filter_id="status" id="_status"><li class="filter_grp "><div class="clearfix"><h3>Status</h3><a href="#" data-value_id="" class="clear clear_show">Clear</a></div><ul><li class="fil_val selected"><a href="#" data-value_id="current-only">Current</a><span class="fcount">(1)</span></li></ul></li></ul><div id="chr-location-facet-wrapper" data-bid="MCID_67d519ccf59ffc79268143c5" data-hid="MCID_67d2a666fe1ad803e8633767" data-qky="35041" class="disabled" style="display:none"><ul class="facet" data-filter_id="chromosomal-region" id="_chromosomal-region" data-of="yes"><li class="filter_grp of_grp"><div class="clearfix"><h3>Chromosome locations</h3><a href="#" data-value_id="" class="clear clear_hide">Clear</a></div><ul><a id="facet_ofchromosomal-region" href="#facet_of_divchromosomal-region" class="jig-ncbipopper" data-jigconfig="triggerPosition: 'middle right', destPosition: 'middle left', hasArrow: true, arrowDirection: 'left', closeEvent : 'click', openEvent: 'click', adjustFit: 'autoAdjust', openAnimation: 'none', closeAnimation: 'none', addCloseButton:true, width: '375px'" data-value_id="fetch_more">more...</a><div id="facet_of_divchromosomal-region" style="display:none;" class="of_popup"><h4>Chromosome locations</h4><label for="organism-filter" style="width:100%;margin-bottom:.2em;" class="">Select an organism by typing or scrolling</label><input type="text" placeholder="Enter text to narrow down the list" id="organism-filter" style="width:98%;" autocomplete="off" /><br /><div id="chr-region-tax-list"><select id="of_chromosomal-region" size="9" class="chr-region-tax-list" style="width:100%;"></select></div><div id="chr-location-info-ctrl" data-disabled="disabled"><div class="chr-field"><label for="chr-name">Chromosome</label><br /><select id="chr-name" class="chr-field" disabled="disabled"></select></div><div class="chr-field"><label for="chr-from">From</label><br /><input type="text" name="chr-from" id="chr-from" disabled="disabled" class="chr-field" /></div><div class="chr-field"><label for="chr-to">To</label><br /><input type="text" name="chr-to" id="chr-to" disabled="disabled" class="chr-field" /></div></div><div class="actions clearfix"><button class="jig-ncbibutton of_add apply-chr" data-jigconfig="'color': 'ui-ncbibutton-blue'">Apply</button></div></div></ul></li></ul></div><ul class="facet facet_reset"><li><a href="#" data-value_id="reset">Clear all</a></li></ul><ul class="facet_tools"><li><a id="more_filter_groups_link" href="#more_filter_groups" class="jig-ncbipopper" data-jigconfig="triggerPosition: 'middle right', destPosition: 'top left', hasArrow: true, arrowDirection: 'left', closeEvent : 'click', openEvent: 'click', adjustFit: 'autoAdjust', openAnimation: 'none', closeAnimation: 'none', addCloseButton:true, width: '180px'">
|
||
Show additional filters</a></li><div id="more_filter_groups" style="display:none;" class="facets_dialog"><button class="ui-ncbipopper-close-button ui-ncbipopper-close-button-generated ui-state-default ui-corner-all ui-button-text-only ui-ncbibutton ui-ncbibutton-blue" generated="true" role="button" aria-disabled="false"><span class="ui-button-text">x</span></button><h4>Additional filters</h4><ul class="filter_groups_more facet"><li><input type="checkbox" id="fg_gene-sources" /><label for="fg_gene-sources">Gene sources</label></li><li><input type="checkbox" id="fg_categories" /><label for="fg_categories">Categories</label></li><li><input type="checkbox" id="fg_sequence-content" /><label for="fg_sequence-content">Sequence content</label></li><li><input type="checkbox" id="fg_status" /><label for="fg_status">Status</label></li><li><input type="checkbox" id="fg_chromosomal-region" /><label for="fg_chromosomal-region">Chromosome locations</label></li><li><input id="fg_field_search" type="checkbox" /><label for="fg_field_search">Search fields</label></li></ul><div class="actions clearfix"><button class="filter_groups_more_apply jig-ncbibutton primary-action" id="filter_groups_apply" data-jigconfig="'color': 'ui-ncbibutton-blue'">Show</button></div></div></ul><input name="EntrezSystem2.PEntrez.Gene.Gene_Facets.FacetsUrlFrag" sid="1" type="hidden" value="filters=current-only" /><input name="EntrezSystem2.PEntrez.Gene.Gene_Facets.FacetSubmitted" sid="1" type="hidden" value="false" /><input name="EntrezSystem2.PEntrez.Gene.Gene_Facets.BMFacets" sid="1" type="hidden" value="" /></div>
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<div class="sidecontentpullout_local" id="sidecontent_1_pullout" rel="1" style="position: fixed !important; top: 118px; z-index: 1000; cursor: pointer; right: 0px; width: 12px;display:none;">
|
||
<span style="display: block; text-align: center;">S</span>
|
||
<span style="display: block; text-align: center;">I</span>
|
||
<span style="display: block; text-align: center;">D</span>
|
||
<span style="display: block; text-align: center;">E</span>
|
||
<span style="display: block; text-align: center;">B</span>
|
||
<span style="display: block; text-align: center;">A</span>
|
||
<span style="display: block; text-align: center;">R</span>
|
||
</div>
|
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|
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||
<div class="results_settings one_setting"><ul class="inline_list left display_settings"><li><a name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.Display" sid="0" href="#" class="jig-ncbipopper" data-jigconfig="triggerPosition : 'bottom center',destPosition : 'top center',destSelector : '#display_settings_menu_report', hasArrow : false,openEvent : 'click',closeEvent : 'click',isTriggerElementCloseClick: false,addCloseButton : false, groupName: 'entrez_pg'" id="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.Display">Full Report<span href="#" class="tgt_dark"></span></a></li></ul><div id="display_settings_menu_report" class="disp_settings tabPopper"><fieldset class="format"><legend>Format</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.sPresentation" sid="1" value="full_report" format="" id="full_report" checked="true" /><label for="full_report">Full Report</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.sPresentation" sid="2" value="full_report" format="text" id="full_reporttext" /><label for="full_reporttext">Full Report (text)</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.sPresentation" sid="3" value="expression" format="" id="expression" /><label for="expression">Expression</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.sPresentation" sid="4" value="gene_table" format="" id="gene_table" /><label for="gene_table">Gene Table</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.sPresentation" sid="5" value="gene_table" format="text" id="gene_tabletext" /><label for="gene_tabletext">Gene Table (text)</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.sPresentation" sid="6" value="generif" format="" id="generif" /><label for="generif">GeneRIF</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.sPresentation" sid="7" value="docsum" format="" id="docsum" /><label for="docsum">Summary</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.sPresentation" sid="8" value="docsum" format="text" id="docsumtext" /><label for="docsumtext">Summary (text)</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.sPresentation" sid="9" value="tabular" format="" id="tabular" /><label for="tabular">Tabular</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.sPresentation" sid="10" value="tabular" format="text" id="tabulartext" /><label for="tabulartext">Tabular (text)</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.sPresentation" sid="11" value="asn1" format="text" id="asn1text" /><label for="asn1text">ASN.1</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.sPresentation" sid="12" value="xml" format="text" id="xmltext" /><label for="xmltext">XML</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.sPresentation" sid="13" value="uilist" format="text" id="uilisttext" /><label for="uilisttext">UI List</label></li></ul></fieldset></div><button name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.SetDisplay" sid="1" class="button_apply ncbipopper-close-button" style="display:none">Apply</button><h4 class="content_header send_to align_right jig-ncbipopper" id="sendto" data-jigconfig="triggerPosition:'bottom center', destPosition : 'top center',destSelector : '#send_to_menu', hasArrow : false, openEvent : 'click',closeEvent : 'click', isTriggerElementCloseClick: false, addCloseButton:true, groupName: 'entrez_pg', adjustFit:'none'"><a href="#" sourceContent="send_to_menu" class="tgt_dark">Send to:</a><script type="text/javascript">
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jQuery(document).ready( function () {
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jQuery("#send_to_menu input[type='radio']").click( function () {
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var selectedValue = jQuery(this).val().toLowerCase();
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var selectedDiv = jQuery("#send_to_menu div." + selectedValue);
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if(selectedDiv.is(":hidden")){
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jQuery("#send_to_menu div.submenu:visible").slideUp();
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selectedDiv.slideDown();
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jQuery("#sendto").bind("ncbipopperclose", function(){
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jQuery("#send_to_menu div.submenu:visible").css("display","none");
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jQuery("#send_to_menu input[type='radio']:checked").attr("checked",false);
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});
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|
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</script></h4><div id="send_to_menu" class="tabPopper send_to"><fieldset><legend>Choose Destination</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.SendTo" sid="1" value="File" id="dest_File" /><label for="dest_File">File</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.SendTo" sid="2" value="AddToClipboard" id="dest_AddToClipboard" /><label for="dest_AddToClipboard">Clipboard</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.SendTo" sid="3" value="AddToCollections" id="dest_AddToCollections" /><label for="dest_AddToCollections">Collections</label></li></ul></fieldset><div class="submenu file" id="submenu_File" style="display: none;"><p id="submenu_File_hint" class="hidden"></p><ul><li><label for="file_format">Format</label><select id="file_format" name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.FFormat" sid="1"><option value="full_report" format="text" selected="selected">Full Report (text)</option><option value="gene_table" format="text">Gene Table (text)</option><option value="docsum" format="text">Summary (text)</option><option value="tabular" format="text">Tabular (text)</option><option value="asn1" format="text">ASN.1</option><option value="xml" format="text">XML</option><option value="uilist" format="text">UI List</option></select></li></ul><button name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.SendToSubmit" sid="1" class="button_apply file ncbipopper-close-button" type="submit" cmd="File">Create File</button></div><div class="submenu addtoclipboard" id="submenu_AddToClipboard" style="display: none;"><p id="submenu_AddToClipboard_hint" class="hidden"></p><button name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.SendToSubmit" sid="2" class="button_apply clipboard ncbipopper-close-button" type="submit" cmd="AddToClipboard">Add to Clipboard</button></div><div class="submenu addtocollections" id="submenu_AddToCollections" style="display: none;"><p id="submenu_AddToCollections_hint" class="hidden"></p><button name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.SendToSubmit" sid="3" class="button_apply collections ncbipopper-close-button" type="submit" cmd="AddToCollections">Add to Collections</button></div></div><div><input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.FileFormat" sid="1" type="hidden" value="full_report" /><input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.LastPresentation" sid="1" type="hidden" value="full_report" /><input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.Presentation" sid="1" type="hidden" value="full_report" /><input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.PageSize" sid="1" type="hidden" value="20" /><input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.LastPageSize" sid="1" type="hidden" value="20" /><input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.Sort" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.LastSort" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.FileSort" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.Format" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.LastFormat" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.PrevPageSize" sid="1" type="hidden" value="20" /><input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.PrevPresentation" sid="1" type="hidden" value="full_report" /><input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.PrevSort" sid="1" type="hidden" value="" /><input type="hidden" id="coll_startindex" name="CollectionStartIndex" value="1" /></div></div>
|
||
<div>
|
||
|
||
|
||
|
||
</div>
|
||
<div class="">
|
||
<div><span id="result_sel" class="nowrap"></span><input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_ResultsController.ResultCount" sid="1" type="hidden" id="resultcount" value="1" /><input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_ResultsController.RunLastQuery" sid="1" type="hidden" /></div>
|
||
|
||
</div>
|
||
<div id="messagearea" class="empty">
|
||
|
||
|
||
|
||
|
||
</div>
|
||
<div class="rprt full-rprt">
|
||
<div>
|
||
<div class="rprt-header">
|
||
<input type="hidden" id="gene-tax-id" value="9606" />
|
||
<h1 class="title" id="gene-name"><span class="gn" style="padding-right:.5em;">MCPH1</span> microcephalin 1 [ <em class="tax">Homo sapiens</em> (human)
|
||
]
|
||
</h1>
|
||
<span class="geneid">Gene ID: 79648, updated on
|
||
8-Mar-2025</span>
|
||
</div>
|
||
<div class="download-datasets">
|
||
<script type="text/javascript" src="https://cdnjs.cloudflare.com/ajax/libs/axios/0.23.0/axios.min.js"></script>
|
||
<h4 class="download-datasets-popper jig-ncbipopper" id="download-asm" style="align-self:start" data-jigconfig="triggerPosition:'bottom center', destPosition : 'top center',destSelector : '#download-datasets-popper-menu', hasArrow : false, openEvent : 'click',closeEvent : 'click', isTriggerElementCloseClick: false, groupName: 'entrez_pg', adjustFit:'none'" role="button" aria-expanded="false" aria-haspopup="true">
|
||
<svg alt="download" class="dlbtn-icon" x="0px" y="0px" width="15px" height="15px" viewBox="0 0 60 60" enable-background="new 0 0 60 60" xml:space="preserve">
|
||
<g>
|
||
<polygon points="48.75,36.25 48.75,48.75 11.25,48.75 11.25,36.25 5,36.25 5,55 55,55 55,36.25 "></polygon>
|
||
<polygon points="42.5,23.75 36.25,23.75 36.25,5 23.75,5 23.75,23.75 17.5,23.75 30,42.5 "></polygon>
|
||
</g>
|
||
</svg>
|
||
<a href="#">Download Datasets</a>
|
||
</h4>
|
||
<div id="download-datasets-popper-menu" style="display:none;">
|
||
<div class="input-group">
|
||
<input type="checkbox" id="datasets-ft-gene-seq-fasta" value="FASTA_GENE" checked="checked" class="download-datasets-included-seq" />
|
||
<label for="datasets-ft-gene-seq-fasta">Gene Sequences (FASTA)</label>
|
||
</div>
|
||
<div class="input-group">
|
||
<input type="checkbox" id="datasets-ft-transcript-seq-fasta" value="FASTA_RNA" class="download-datasets-included-seq" />
|
||
<label for="datasets-ft-transcript-seq-fasta">Transcript sequences (FASTA)</label>
|
||
</div>
|
||
<div class="input-group">
|
||
<input type="checkbox" id="datasets-ft-protein-seq-fasta" value="FASTA_PROTEIN" class="download-datasets-included-seq" />
|
||
<label for="datasets-ft-protein-seq-fasta">Protein sequences(FASTA)</label>
|
||
</div>
|
||
<p style="margin-left:5px;">In addition, your package will include a detailed data report in both TSV and JSONL formats.</p>
|
||
<div class="input-group">
|
||
<label for="datasets-download-file-name">File name</label>
|
||
<input type="text" id="datasets-download-file-name" placeholder="Name your file" style="padding:5px;" value="MCPH1_datasets.zip" />
|
||
</div>
|
||
<input type="hidden" id="download-datasets-base-url" value="https://api.ncbi.nlm.nih.gov/datasets/v2alpha/gene/download" />
|
||
<input type="hidden" id="gene-id-value" value="79648" />
|
||
<button id="datasets-download-submit" data-ga-action="click_begin_download" data-ga-label="download" class="jig-ncbibutton ui-state-default ui-corner-all ui-button-text-only ui-ncbibutton ui-ncbibutton-gray" role="button">
|
||
<span class="ui-button-text">Download</span>
|
||
</button>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="rprt-body">
|
||
|
||
|
||
<div class="rprt-section gene-summary">
|
||
<section class="rprt-section-header" id="summary">
|
||
<h2 id="header-summary">
|
||
<a href="#" class="jig-ncbitoggler-open" data-jigconfig="targets: '.gene-summary .rprt-section-body'">
|
||
<span class="ui-ncbitoggler-master-text">Summary</span>
|
||
</a>
|
||
</h2>
|
||
<div class="rprt-section-tools">
|
||
<a href="#top" title="Go to the top of the page" class="gene-top-page">
|
||
<span>Go to the top of the page</span>
|
||
</a>
|
||
<a href="/books/NBK3841/#EntrezGene.Summary_2" title="Help" class="gene-section-help">
|
||
<span>Help</span>
|
||
</a>
|
||
</div>
|
||
</section>
|
||
<div class="rprt-section-body">
|
||
<div id="summaryDiv" class="section">
|
||
<dl id="summaryDl">
|
||
<dt class="noline"> Official
|
||
Symbol</dt>
|
||
<dd class="noline">MCPH1<span class="prov">provided by <a href="http://www.genenames.org/" target="_blank" title="HUGO Gene Nomenclature Committee">HGNC</a></span></dd>
|
||
<dt> Official
|
||
Full Name</dt>
|
||
<dd>microcephalin 1<span class="prov">provided by <a href="http://www.genenames.org/" target="_blank" title="HUGO Gene Nomenclature Committee">HGNC</a></span></dd>
|
||
<dt>Primary source</dt>
|
||
<dd>
|
||
<a href="https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6954" data-gblink-text="Ensembl">HGNC:HGNC:6954</a>
|
||
</dd>
|
||
<dt>See related</dt>
|
||
<dd>
|
||
<a href="http://www.ensembl.org/id/ENSG00000147316" data-gblink-text="Ensembl" class="genome-browser-link" data-genome-browser-link-sort="5" data-gb-url="http://www.ensembl.org/loc/ENSG00000147316">Ensembl:ENSG00000147316</a>
|
||
<a href="https://www.ncbi.nlm.nih.gov/omim/607117" data-gblink-text="Ensembl" ref="ordinalpos=1&ncbi_uid=79648&link_uid=607117">MIM:607117;</a>
|
||
<a href="https://www.alliancegenome.org/gene/HGNC:6954" data-gblink-text="Ensembl" ref="ordinalpos=1&ncbi_uid=79648&link_uid=HGNC:6954">AllianceGenome:HGNC:6954</a>
|
||
</dd>
|
||
<dt>Gene type</dt>
|
||
<dd>protein coding</dd>
|
||
<dt>RefSeq status</dt>
|
||
<dd>REVIEWED</dd>
|
||
<dt>Organism</dt>
|
||
<dd class="tax">
|
||
<a href="/Taxonomy/Browser/wwwtax.cgi?id=9606" ref="ordinalpos=1&ncbi_uid=79648&link_uid=9606">Homo sapiens</a>
|
||
</dd>
|
||
<dt>Lineage</dt>
|
||
<dd class="tax">Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo</dd>
|
||
<dt>Also known as</dt>
|
||
<dd>MCT; BRIT1</dd>
|
||
<dt>Summary</dt>
|
||
<dd>This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]</dd>
|
||
<dt>Expression</dt>
|
||
<dd>Ubiquitous expression in bone marrow (RPKM 1.3), testis (RPKM 1.1) and 25 other tissues <a href="#gene-expression">See more</a></dd>
|
||
<dt>Orthologs</dt>
|
||
<dd class="ortholog-links">
|
||
<a href="https://www.ncbi.nlm.nih.gov/gene/244329">mouse</a>
|
||
<a href="/gene/79648/ortholog/">all</a>
|
||
</dd>
|
||
<dt style="padding-top:.5em;">
|
||
<span class="new-icon">NEW</span>
|
||
</dt>
|
||
<dd style="padding-top:.5em;">
|
||
<strong>Try the new <a href="https://www.ncbi.nlm.nih.gov/datasets/gene/id/79648/" data-ga-category="summary" data-ga-action="click_datasets_link" data-ga-label="gene_table" title="View selected attributes for an input list of genes and download datasets containing genomic, transcript and protein sequences along with a detailed data report.">Gene table</a></strong>
|
||
<br />
|
||
<strong>Try the new <a href="https://www.ncbi.nlm.nih.gov/datasets/gene/id/79648/products/" data-ga-category="summary" data-ga-action="click_datasets_link" data-ga-label="transcript_table" title="View selected attributes for an input list of genes and download datasets containing genomic, transcript and protein sequences along with a detailed data report.">Transcript table</a></strong>
|
||
</dd>
|
||
</dl>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="rprt-section gene-genomic-context">
|
||
<section class="rprt-section-header" id="genomic-context">
|
||
<h2 id="header-genomic-context">
|
||
<a href="#" class="jig-ncbitoggler-open" data-jigconfig="targets: '.gene-genomic-context .rprt-section-body'">
|
||
<span class="ui-ncbitoggler-master-text">Genomic context</span>
|
||
</a>
|
||
</h2>
|
||
<div class="rprt-section-tools">
|
||
<a href="#top" title="Go to the top of the page" class="gene-top-page">
|
||
<span>Go to the top of the page</span>
|
||
</a>
|
||
<a href="/books/NBK3841/#EntrezGene.Genomic_Context" title="Help" class="gene-section-help">
|
||
<span>Help</span>
|
||
</a>
|
||
</div>
|
||
</section>
|
||
<div class="rprt-section-body">
|
||
<div class="gc_cont">
|
||
<div class="gt_cont_contents">
|
||
<div style="float:right"><span>See MCPH1 in </span><a href="/genome/gdv/?context=gene&acc=79648" class="link-to-gdv genome-browser-link" data-genome-browser-link-sort="1" data-acc="GCF_000001405.40">Genome Data Viewer</a> </div>
|
||
<dl class="dl-chr-info" style="float:left;margin-top:0;">
|
||
<dt>Location: </dt>
|
||
<dd>
|
||
<span style="display:inline-block;">8p23.1</span>
|
||
</dd>
|
||
</dl>
|
||
</div>
|
||
<dl class="dl-chr-info exon-count">
|
||
<dt>Exon count: </dt>
|
||
<dd>23</dd>
|
||
</dl>
|
||
<div class="ui-ncbigrid-outer-div" id="genomic-context-tbl-location">
|
||
<div class="ui-ncbigrid-inner-div">
|
||
<table class="jig-ncbigrid" data-jigconfig="">
|
||
<thead>
|
||
<tr>
|
||
<th style="max-width:15%">Annotation release</th>
|
||
<th style="max-width:10%">Status</th>
|
||
<th>Assembly</th>
|
||
<th>
|
||
<span title="Chromosome">Chr</span>
|
||
</th>
|
||
<th>Location</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
<tr>
|
||
<td>RS_2024_08</td>
|
||
<td>current</td>
|
||
<td>GRCh38.p14 (<a href="/assembly/GCF_000001405.40/" ref="ncbi_uid=79648&link_uid=GCF_000001405.40">GCF_000001405.40</a>)</td>
|
||
<td>8</td>
|
||
<td>NC_000008.11 (6406627..6648508) </td>
|
||
</tr>
|
||
<tr>
|
||
<td>RS_2024_08</td>
|
||
<td>current</td>
|
||
<td>T2T-CHM13v2.0 (<a href="/assembly/GCF_009914755.1/" ref="ncbi_uid=79648&link_uid=GCF_009914755.1">GCF_009914755.1</a>)</td>
|
||
<td>8</td>
|
||
<td>NC_060932.1 (6161207..6402976) </td>
|
||
</tr>
|
||
<tr>
|
||
<td>RS_2024_09</td>
|
||
<td>previous assembly</td>
|
||
<td>GRCh37.p13 (<a href="/assembly/GCF_000001405.25/" ref="ncbi_uid=79648&link_uid=GCF_000001405.25">GCF_000001405.25</a>)</td>
|
||
<td>8</td>
|
||
<td>NC_000008.10 (6264148..6506029) </td>
|
||
</tr>
|
||
</tbody>
|
||
</table>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
<p class="withnote margin_t2em"><strong>Chromosome 8 - NC_000008.11</strong><img usemap="#nbrMap79648_568815590" border="0" alt="Genomic Context describing neighboring genes" src="/gutils/geneneighb.fcgi?geneid=79648&nuc_gi=568815590&n0=LOC105377797&n1=LOC132089603&n2=LOC126860289&n3=LOC127458516&n4=LOC126860290&n5=LOC129389953&n6=MCPH1-DT&n7=LOC129999779&n8=MCPH1&n9=LOC129999780&n10=LOC129999781&n11=LOC123987612&n12=LOC101928016&n13=ANGPT2&n14=LOC126860291&n15=LOC123987613&n16=LOC127458517&n17=LOC127458518&n18=LOC127458519&n19=LOC129662220&n20=LOC132089604&n21=LOC127458520&n22=LOC127458521&n23=LOC127458522&n24=LOC126860292&n25=LOC127458523&n26=MCPH1-AS1&n27=LOC127458524&n28=MIR8055&n29=LOC127458525&n30=LOC126860293&n31=LOC129999782&n32=LOC129999783&n33=LOC129999784&n34=LOC129999785&n35=LOC129999786&n36=LOC129999787&n37=LOC129999788&n38=AGPAT5&n39=LOC129999789&n40=LOC100422495&n41=LOC129999790&n42=LOC129999791&n43=LOC129999792&n44=LOC129999793&n45=MIR4659A&n46=MIR4659B" /><map name="nbrMap79648_568815590" id="nbrMap79648_568815590">
|
||
<area shape="rect" onMouseOver="showtip(this,event,'uncharacterized LOC105377797')" onMouseOut="hidetip()" coords="2,23,72,31" alt="Neighboring gene uncharacterized LOC105377797" href="/gene/105377797" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'Neanderthal introgressed variant-containing enhancer experimental_103459')" onMouseOut="hidetip()" coords="29,35,99,43" alt="Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_103459" href="/gene/132089603" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:6170563-6171762')" onMouseOut="hidetip()" coords="132,23,202,31" alt="Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:6170563-6171762" href="/gene/126860289" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'NANOG hESC enhancer GRCh37_chr8:6189146-6189652')" onMouseOut="hidetip()" coords="142,35,212,43" alt="Neighboring gene NANOG hESC enhancer GRCh37_chr8:6189146-6189652" href="/gene/127458516" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'BRD4-independent group 4 enhancer GRCh37_chr8:6247558-6248757')" onMouseOut="hidetip()" coords="171,47,241,55" alt="Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:6247558-6248757" href="/gene/126860290" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'MPRA-validated peak6892 silencer')" onMouseOut="hidetip()" coords="176,59,246,67" alt="Neighboring gene MPRA-validated peak6892 silencer" href="/gene/129389953" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'ATAC-STARR-seq lymphoblastoid silent region 18880')" onMouseOut="hidetip()" coords="180,71,250,79" alt="Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18880" href="/gene/129999779" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'ATAC-STARR-seq lymphoblastoid silent region 18881')" onMouseOut="hidetip()" coords="180,83,250,91" alt="Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18881" href="/gene/129999780" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'ATAC-STARR-seq lymphoblastoid active region 26946')" onMouseOut="hidetip()" coords="186,95,256,103" alt="Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26946" href="/gene/129999781" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'Sharpr-MPRA regulatory region 14576')" onMouseOut="hidetip()" coords="191,107,261,115" alt="Neighboring gene Sharpr-MPRA regulatory region 14576" href="/gene/123987612" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'MCPH1 divergent transcript')" onMouseOut="hidetip()" coords="198,119,248,127" alt="Neighboring gene MCPH1 divergent transcript" href="/gene/100287015" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'adenylate kinase isoenzyme 6-like')" onMouseOut="hidetip()" coords="214,23,284,31" alt="Neighboring gene adenylate kinase isoenzyme 6-like" href="/gene/101928016" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'BRD4-independent group 4 enhancer GRCh37_chr8:6385720-6386919')" onMouseOut="hidetip()" coords="242,47,312,55" alt="Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:6385720-6386919" href="/gene/126860291" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'angiopoietin 2')" onMouseOut="hidetip()" coords="257,59,322,67" alt="Neighboring gene angiopoietin 2" href="/gene/285" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'Sharpr-MPRA regulatory region 12768')" onMouseOut="hidetip()" coords="259,71,329,79" alt="Neighboring gene Sharpr-MPRA regulatory region 12768" href="/gene/123987613" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'H3K4me1 hESC enhancer GRCh37_chr8:6419583-6420108')" onMouseOut="hidetip()" coords="259,83,329,91" alt="Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:6419583-6420108" href="/gene/127458517" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:6420109-6420635')" onMouseOut="hidetip()" coords="259,95,329,103" alt="Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:6420109-6420635" href="/gene/127458518" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:6434138-6434684')" onMouseOut="hidetip()" coords="267,107,337,115" alt="Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:6434138-6434684" href="/gene/127458519" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'ReSE screen-validated silencer GRCh37_chr8:6436241-6436413')" onMouseOut="hidetip()" coords="268,119,338,127" alt="Neighboring gene ReSE screen-validated silencer GRCh37_chr8:6436241-6436413" href="/gene/129662220" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'Neanderthal introgressed variant-containing enhancer experimental_103492')" onMouseOut="hidetip()" coords="272,131,342,139" alt="Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_103492" href="/gene/132089604" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'H3K27ac hESC enhancer GRCh37_chr8:6446215-6446714')" onMouseOut="hidetip()" coords="273,143,343,151" alt="Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:6446215-6446714" href="/gene/127458520" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:6451447-6452362')" onMouseOut="hidetip()" coords="275,155,345,163" alt="Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:6451447-6452362" href="/gene/127458522" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:6450530-6451446')" onMouseOut="hidetip()" coords="275,167,345,175" alt="Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:6450530-6451446" href="/gene/127458521" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:6456108-6457307')" onMouseOut="hidetip()" coords="278,179,348,187" alt="Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:6456108-6457307" href="/gene/126860292" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'H3K4me1 hESC enhancer GRCh37_chr8:6459927-6460426')" onMouseOut="hidetip()" coords="280,191,350,199" alt="Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:6459927-6460426" href="/gene/127458523" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'NANOG hESC enhancer GRCh37_chr8:6473596-6474097')" onMouseOut="hidetip()" coords="287,23,357,31" alt="Neighboring gene NANOG hESC enhancer GRCh37_chr8:6473596-6474097" href="/gene/127458524" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'H3K4me1 hESC enhancer GRCh37_chr8:6481178-6481678')" onMouseOut="hidetip()" coords="291,203,361,211" alt="Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:6481178-6481678" href="/gene/127458525" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'MCPH1 antisense RNA 1')" onMouseOut="hidetip()" coords="302,215,396,223" alt="Neighboring gene MCPH1 antisense RNA 1" href="/gene/100507530" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:6505663-6506862')" onMouseOut="hidetip()" coords="303,227,373,235" alt="Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:6505663-6506862" href="/gene/126860293" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'ATAC-STARR-seq lymphoblastoid silent region 18882')" onMouseOut="hidetip()" coords="312,239,382,247" alt="Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18882" href="/gene/129999782" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'ATAC-STARR-seq lymphoblastoid active region 26948')" onMouseOut="hidetip()" coords="312,251,382,259" alt="Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26948" href="/gene/129999783" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'ATAC-STARR-seq lymphoblastoid active region 26949')" onMouseOut="hidetip()" coords="312,263,382,271" alt="Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26949" href="/gene/129999784" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'ATAC-STARR-seq lymphoblastoid active region 26950')" onMouseOut="hidetip()" coords="312,275,382,283" alt="Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26950" href="/gene/129999785" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'microRNA 8055')" onMouseOut="hidetip()" coords="315,47,360,55" alt="Neighboring gene microRNA 8055" href="/gene/102465861" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'ATAC-STARR-seq lymphoblastoid active region 26951')" onMouseOut="hidetip()" coords="325,59,395,67" alt="Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26951" href="/gene/129999786" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'ATAC-STARR-seq lymphoblastoid active region 26952')" onMouseOut="hidetip()" coords="325,287,395,295" alt="Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26952" href="/gene/129999787" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'ATAC-STARR-seq lymphoblastoid silent region 18883')" onMouseOut="hidetip()" coords="334,71,404,79" alt="Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18883" href="/gene/129999788" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'ATAC-STARR-seq lymphoblastoid silent region 18884')" onMouseOut="hidetip()" coords="334,83,404,91" alt="Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18884" href="/gene/129999789" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'protein tyrosine phosphatase non-receptor type 4 pseudogene')" onMouseOut="hidetip()" coords="339,95,409,103" alt="Neighboring gene protein tyrosine phosphatase non-receptor type 4 pseudogene" href="/gene/100422495" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'ATAC-STARR-seq lymphoblastoid silent region 18885')" onMouseOut="hidetip()" coords="340,107,410,115" alt="Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18885" href="/gene/129999790" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'ATAC-STARR-seq lymphoblastoid active region 26953')" onMouseOut="hidetip()" coords="348,119,418,127" alt="Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26953" href="/gene/129999791" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'ATAC-STARR-seq lymphoblastoid active region 26954')" onMouseOut="hidetip()" coords="352,131,422,139" alt="Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26954" href="/gene/129999792" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'ATAC-STARR-seq lymphoblastoid active region 26955')" onMouseOut="hidetip()" coords="352,143,422,151" alt="Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26955" href="/gene/129999793" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'1-acylglycerol-3-phosphate O-acyltransferase 5')" onMouseOut="hidetip()" coords="364,23,423,31" alt="Neighboring gene 1-acylglycerol-3-phosphate O-acyltransferase 5" href="/gene/55326" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'microRNA 4659a')" onMouseOut="hidetip()" coords="373,35,423,43" alt="Neighboring gene microRNA 4659a" href="/gene/100616348" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'microRNA 4659b')" onMouseOut="hidetip()" coords="373,47,423,55" alt="Neighboring gene microRNA 4659b" href="/gene/100616372" />
|
||
</map>
|
||
</p>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="rprt-section gene-genomic-regions-transcripts-products">
|
||
<section class="rprt-section-header" id="genomic-regions-transcripts-products">
|
||
<h2 id="header-genomic-regions-transcripts-products">
|
||
<a href="#" class="jig-ncbitoggler-open" data-jigconfig="targets: '.gene-genomic-regions-transcripts-products .rprt-section-body'">
|
||
<span class="ui-ncbitoggler-master-text">Genomic regions, transcripts, and products</span>
|
||
</a>
|
||
</h2>
|
||
<div class="rprt-section-tools">
|
||
<a href="#top" title="Go to the top of the page" class="gene-top-page">
|
||
<span>Go to the top of the page</span>
|
||
</a>
|
||
<a href="/books/NBK3841/#EntrezGene.Genomic_Regions_Transcripts_a" title="Help" class="gene-section-help">
|
||
<span>Help</span>
|
||
</a>
|
||
</div>
|
||
</section>
|
||
<div class="rprt-section-body">
|
||
<div>
|
||
<div style="text-align:right;">Go to <a href="#reference-sequences">reference sequence details</a></div>
|
||
</div>
|
||
<div>
|
||
<p class="choose">
|
||
<label for="accession" class="label">Genomic Sequence: </label>
|
||
<select name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_GenomicProductsP.accessionList" sid="1" id="accessionList" data-taxid="9606" data-geneid="79648">
|
||
<option value="NC_000008.11_6406626_6648507">NC_000008.11 Chromosome 8 Reference GRCh38.p14 Primary Assembly</option>
|
||
<option value="NW_018654717.1_8384_43777">NW_018654717.1 Chromosome 8 Reference GRCh38.p14 PATCHES</option>
|
||
<option value="NW_025791785.1_342104_416355">NW_025791785.1 Chromosome 8 Reference GRCh38.p14 PATCHES</option>
|
||
<option value="NG_016619.3_5001_246882">NG_016619.3 RefSeqGene</option>
|
||
<option value="NC_060932.1_6161206_6402975">NC_060932.1 Chromosome 8 Alternate T2T-CHM13v2.0</option>
|
||
<option value="NC_000008.10_6264147_6506028">NC_000008.10 Chromosome 8 Reference GRCh37.p13 Primary Assembly</option>
|
||
</select>
|
||
</p>
|
||
</div>
|
||
<div id="NC_000008" class="divAccession">
|
||
<div class="seq-viewer">
|
||
<p class="note-link">
|
||
<strong>Go to nucleotide:</strong>
|
||
<a title="Nucleotide Graphic report" href="/nuccore/NC_000008.11?report=graph&from=6370344&to=6684789&app_context=Gene&assm_context=GCF_000001405.40" ref="ordinalpos=1&ncbi_uid=79648&link_uid=NC_000008.11">Graphics</a>
|
||
<a title="Nucleotide FASTA report" href="/nuccore/NC_000008.11?report=fasta&from=6406627&to=6648508" ref="ordinalpos=1&ncbi_uid=79648&link_uid=NC_000008.11">FASTA</a>
|
||
<a title="Nucleotide GenBank report" href="/nuccore/NC_000008.11?report=genbank&from=6406627&to=6648508" ref="ordinalpos=1&ncbi_uid=79648&link_uid=NC_000008.11">GenBank</a>
|
||
</p>
|
||
<div id="divNC_000008" class="SeqViewerApp" style="clear:both;" data-sv="appname=ncbigene&embedded=true&noslider=1&id=NC_000008.11&from=6370344&to=6684789&app_context=Gene&assm_context=GCF_000001405.40">
|
||
<a href="?appname=ncbigene&embedded=true&noslider=1&id=NC_000008.11&from=6370344&to=6684789&app_context=Gene&assm_context=GCF_000001405.40"></a>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
<input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_GenomicProductsP.nucleotideLink_NC_000008.11" sid="1" type="hidden" id="nucleotideLink_NC_000008_11_6406626_6648507" value="<p class="note-link"><strong>Go to nucleotide:</strong><a title="Nucleotide Graphic report" href="/nuccore/NC_000008.11?report=graph&amp;from=6370344&amp;to=6684789&amp;app_context=Gene&amp;assm_context=GCF_000001405.40" ref="ordinalpos=1&amp;ncbi_uid=79648&amp;link_uid=NC_000008.11">Graphics</a><a title="Nucleotide FASTA report" href="/nuccore/NC_000008.11?report=fasta&amp;from=6406627&amp;to=6648508" ref="ordinalpos=1&amp;ncbi_uid=79648&amp;link_uid=NC_000008.11">FASTA</a><a title="Nucleotide GenBank report" href="/nuccore/NC_000008.11?report=genbank&amp;from=6406627&amp;to=6648508" ref="ordinalpos=1&amp;ncbi_uid=79648&amp;link_uid=NC_000008.11">GenBank</a></p>" />
|
||
<input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_GenomicProductsP.relString_NC_000008.11" sid="1" type="hidden" id="relString_NC_000008_11_6406626_6648507" value="appname=ncbigene&amp;embedded=true&amp;noslider=1&amp;id=NC_000008.11&amp;from=6370344&amp;to=6684789&amp;app_context=Gene&amp;assm_context=GCF_000001405.40" />
|
||
<input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_GenomicProductsP.nucleotideLink_NW_018654717.1" sid="1" type="hidden" id="nucleotideLink_NW_018654717_1_8384_43777" value="<p class="note-link"><strong>Go to nucleotide:</strong><a title="Nucleotide Graphic report" href="/nuccore/NW_018654717.1?report=graph&amp;from=3075&amp;to=49086&amp;app_context=Gene&amp;assm_context=GCF_000001405.40" ref="ordinalpos=1&amp;ncbi_uid=79648&amp;link_uid=NW_018654717.1">Graphics</a><a title="Nucleotide FASTA report" href="/nuccore/NW_018654717.1?report=fasta&amp;from=8385&amp;to=43778" ref="ordinalpos=1&amp;ncbi_uid=79648&amp;link_uid=NW_018654717.1">FASTA</a><a title="Nucleotide GenBank report" href="/nuccore/NW_018654717.1?report=genbank&amp;from=8385&amp;to=43778" ref="ordinalpos=1&amp;ncbi_uid=79648&amp;link_uid=NW_018654717.1">GenBank</a></p>" />
|
||
<input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_GenomicProductsP.relString_NW_018654717.1" sid="1" type="hidden" id="relString_NW_018654717_1_8384_43777" value="appname=ncbigene&amp;embedded=true&amp;noslider=1&amp;id=NW_018654717.1&amp;from=3075&amp;to=49086&amp;app_context=Gene&amp;assm_context=GCF_000001405.40" />
|
||
<input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_GenomicProductsP.nucleotideLink_NW_025791785.1" sid="1" type="hidden" id="nucleotideLink_NW_025791785_1_342104_416355" value="<p class="note-link"><strong>Go to nucleotide:</strong><a title="Nucleotide Graphic report" href="/nuccore/NW_025791785.1?report=graph&amp;from=330966&amp;to=427493&amp;app_context=Gene&amp;assm_context=GCF_000001405.40" ref="ordinalpos=1&amp;ncbi_uid=79648&amp;link_uid=NW_025791785.1">Graphics</a><a title="Nucleotide FASTA report" href="/nuccore/NW_025791785.1?report=fasta&amp;from=342105&amp;to=416356" ref="ordinalpos=1&amp;ncbi_uid=79648&amp;link_uid=NW_025791785.1">FASTA</a><a title="Nucleotide GenBank report" href="/nuccore/NW_025791785.1?report=genbank&amp;from=342105&amp;to=416356" ref="ordinalpos=1&amp;ncbi_uid=79648&amp;link_uid=NW_025791785.1">GenBank</a></p>" />
|
||
<input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_GenomicProductsP.relString_NW_025791785.1" sid="1" type="hidden" id="relString_NW_025791785_1_342104_416355" value="appname=ncbigene&amp;embedded=true&amp;noslider=1&amp;id=NW_025791785.1&amp;from=330966&amp;to=427493&amp;app_context=Gene&amp;assm_context=GCF_000001405.40" />
|
||
<input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_GenomicProductsP.nucleotideLink_NG_016619.3" sid="1" type="hidden" id="nucleotideLink_NG_016619_3_5001_246882" value="<p class="note-link"><strong>Go to nucleotide:</strong><a title="Nucleotide Graphic report" href="/nuccore/NG_016619.3?report=graph&amp;from=1&amp;to=283164&amp;tracks=[key:sequence_track,name:Sequence,display_name:Sequence,category:Sequence,annots:Sequence,ShowLabel:false][key:gene_model_track,name:Genes---Unnamed,display_name:Genes,annots:Unnamed,Options:ShowAllButGenes,SNPs:false,CDSProductFeats:false,ShowLabelsForAllFeatures:true,HighlightMode:2][key:SNP_track,name:SNP,annots:SNP,Layout:Adaptive][key:SNP_Bins_track,name:Clinical Variants][key:SNP_Bins_track,name:Cited Variants][key:GWAS_track,name:GWAS Tracks,display_name:Association Results][key:alignment_track,category:Alignments,annots:Unnamed][key:alignment_track,category:Alignments,annots:NA000079160.1][key:alignment_track,category:Alignments,annots:NA000010065.1]" ref="ordinalpos=1&amp;ncbi_uid=79648&amp;link_uid=NG_016619.3">Graphics</a><a title="Nucleotide FASTA report" href="/nuccore/NG_016619.3?report=fasta&amp;from=5002&amp;to=246883" ref="ordinalpos=1&amp;ncbi_uid=79648&amp;link_uid=NG_016619.3">FASTA</a><a title="Nucleotide GenBank report" href="/nuccore/NG_016619.3?report=genbank&amp;from=5002&amp;to=246883" ref="ordinalpos=1&amp;ncbi_uid=79648&amp;link_uid=NG_016619.3">GenBank</a></p>" />
|
||
<input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_GenomicProductsP.relString_NG_016619.3" sid="1" type="hidden" id="relString_NG_016619_3_5001_246882" value="appname=ncbigene&amp;embedded=true&amp;noslider=1&amp;id=NG_016619.3&amp;from=1&amp;to=283164&amp;tracks=[key:sequence_track,name:Sequence,display_name:Sequence,category:Sequence,annots:Sequence,ShowLabel:false][key:gene_model_track,name:Genes---Unnamed,display_name:Genes,annots:Unnamed,Options:ShowAllButGenes,SNPs:false,CDSProductFeats:false,ShowLabelsForAllFeatures:true,HighlightMode:2][key:SNP_track,name:SNP,annots:SNP,Layout:Adaptive][key:SNP_Bins_track,name:Clinical Variants][key:SNP_Bins_track,name:Cited Variants][key:GWAS_track,name:GWAS Tracks,display_name:Association Results][key:alignment_track,category:Alignments,annots:Unnamed][key:alignment_track,category:Alignments,annots:NA000079160.1][key:alignment_track,category:Alignments,annots:NA000010065.1]" />
|
||
<input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_GenomicProductsP.nucleotideLink_NC_060932.1" sid="1" type="hidden" id="nucleotideLink_NC_060932_1_6161206_6402975" value="<p class="note-link"><strong>Go to nucleotide:</strong><a title="Nucleotide Graphic report" href="/nuccore/NC_060932.1?report=graph&amp;from=6124941&amp;to=6439240&amp;app_context=Gene&amp;assm_context=GCF_009914755.1" ref="ordinalpos=1&amp;ncbi_uid=79648&amp;link_uid=NC_060932.1">Graphics</a><a title="Nucleotide FASTA report" href="/nuccore/NC_060932.1?report=fasta&amp;from=6161207&amp;to=6402976" ref="ordinalpos=1&amp;ncbi_uid=79648&amp;link_uid=NC_060932.1">FASTA</a><a title="Nucleotide GenBank report" href="/nuccore/NC_060932.1?report=genbank&amp;from=6161207&amp;to=6402976" ref="ordinalpos=1&amp;ncbi_uid=79648&amp;link_uid=NC_060932.1">GenBank</a></p>" />
|
||
<input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_GenomicProductsP.relString_NC_060932.1" sid="1" type="hidden" id="relString_NC_060932_1_6161206_6402975" value="appname=ncbigene&amp;embedded=true&amp;noslider=1&amp;id=NC_060932.1&amp;from=6124941&amp;to=6439240&amp;app_context=Gene&amp;assm_context=GCF_009914755.1" />
|
||
<input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_GenomicProductsP.nucleotideLink_NC_000008.10" sid="1" type="hidden" id="nucleotideLink_NC_000008_10_6264147_6506028" value="<p class="note-link"><strong>Go to nucleotide:</strong><a title="Nucleotide Graphic report" href="/nuccore/NC_000008.10?report=graph&amp;from=6227865&amp;to=6542310&amp;app_context=Gene&amp;assm_context=GCF_000001405.25" ref="ordinalpos=1&amp;ncbi_uid=79648&amp;link_uid=NC_000008.10">Graphics</a><a title="Nucleotide FASTA report" href="/nuccore/NC_000008.10?report=fasta&amp;from=6264148&amp;to=6506029" ref="ordinalpos=1&amp;ncbi_uid=79648&amp;link_uid=NC_000008.10">FASTA</a><a title="Nucleotide GenBank report" href="/nuccore/NC_000008.10?report=genbank&amp;from=6264148&amp;to=6506029" ref="ordinalpos=1&amp;ncbi_uid=79648&amp;link_uid=NC_000008.10">GenBank</a></p>" />
|
||
<input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_GenomicProductsP.relString_NC_000008.10" sid="1" type="hidden" id="relString_NC_000008_10_6264147_6506028" value="appname=ncbigene&amp;embedded=true&amp;noslider=1&amp;id=NC_000008.10&amp;from=6227865&amp;to=6542310&amp;app_context=Gene&amp;assm_context=GCF_000001405.25" />
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="rprt-section gene-gene-expression">
|
||
<section class="rprt-section-header" id="gene-expression">
|
||
<h2 id="header-gene-expression">
|
||
<a href="#" class="jig-ncbitoggler-open" data-jigconfig="targets: '.gene-gene-expression .rprt-section-body'">
|
||
<span class="ui-ncbitoggler-master-text">Expression</span>
|
||
</a>
|
||
</h2>
|
||
<div class="rprt-section-tools">
|
||
<a href="#top" title="Go to the top of the page" class="gene-top-page">
|
||
<span>Go to the top of the page</span>
|
||
</a>
|
||
<a href="/books/NBK3841/#EntrezGene.Expression" title="Help" class="gene-section-help">
|
||
<span>Help</span>
|
||
</a>
|
||
</div>
|
||
</section>
|
||
<div class="rprt-section-body">
|
||
<div>
|
||
<div style="text-align:right;">
|
||
<a href="/gene/79648/?report=expression" data-url="/gene/79648/?report=expression" id="gene-expression-see-details">See details</a>
|
||
</div>
|
||
<div id="gene-expression-app" data-url="https://www.ncbi.nlm.nih.gov/gene/79648" data-report-type="summary">
|
||
<div>
|
||
<script type="text/javascript">
|
||
|
||
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'source_name': 'heart 10wk', 'full_rpkm': 1.06164, 'exp_rpkm': 1.06, 'var': 0.0, 'project_desc': 'PRJNA270632', '_version_': 1785734435515138067}, 'heart 11wk': {'id': '79648_Heart_11wk;_PRJNA270632', 'gene': 79648, 'source_name': 'heart 11wk', 'full_rpkm': 0.542634, 'exp_rpkm': 0.543, 'var': 0.0, 'project_desc': 'PRJNA270632', '_version_': 1785734435515138068}, 'heart 17wk': {'id': '79648_Heart_17wk;_PRJNA270632', 'gene': 79648, 'source_name': 'heart 17wk', 'full_rpkm': 0.38308, 'exp_rpkm': 0.383, 'var': 0.0, 'project_desc': 'PRJNA270632', '_version_': 1785734435515138069}, 'heart 18wk': {'id': '79648_Heart_18wk;_PRJNA270632', 'gene': 79648, 'source_name': 'heart 18wk', 'full_rpkm': 0.484457, 'exp_rpkm': 0.484, 'var': 0.0, 'project_desc': 'PRJNA270632', '_version_': 1785734435515138070}, 'heart 20wk': {'id': '79648_Heart_20wk_PRJNA270632', 'gene': 79648, 'source_name': 'heart 20wk', 'full_rpkm': 0.461352, 'exp_rpkm': 0.461, 'var': 0.00750609, 'project_desc': 'PRJNA270632', 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|
||
|
||
|
||
|
||
|
||
window.details_data = {"adrenal 10wk": [{"id": "metadata_9606_SAMN03267754", "gene": 79648, "sample_id": "SAMN03267754", "full_rpkm": 0.643988, "exp_rpkm": 0.644, "exp_total": 77418, "project_desc": "PRJNA270632", "_version_": 1785734387345653765, "is_metadata": true, "is_sample": true, "taxid": 9606, "source_name": "adrenal 10wk", "exp_Mcount": 4852.92}], "adrenal 16wk": [{"id": "metadata_9606_SAMN03267755", "gene": 79648, "sample_id": "SAMN03267755", "full_rpkm": 0.384667, "exp_rpkm": 0.385, "exp_total": 69269, "project_desc": "PRJNA270632", "_version_": 1785734387345653764, "is_metadata": true, "is_sample": true, "taxid": 9606, "source_name": "adrenal 16wk", "exp_Mcount": 7269.31}], "adrenal 18wk": [{"id": "metadata_9606_SAMN03267761", "gene": 79648, "sample_id": "SAMN03267761", "full_rpkm": 0.560276, "exp_rpkm": 0.56, "exp_total": 92649, "project_desc": "PRJNA270632", "_version_": 1785734387345653763, "is_metadata": true, "is_sample": true, "taxid": 9606, "source_name": "adrenal 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15wk": [{"id": "metadata_9606_SAMN03267775", "gene": 79648, "sample_id": "SAMN03267775", "full_rpkm": 0.713096, "exp_rpkm": 0.713, "exp_total": 70314, "project_desc": "PRJNA270632", "_version_": 1785734387344605201, "is_metadata": true, "is_sample": true, "taxid": 9606, "source_name": "intestine 15wk", "exp_Mcount": 3980.45}], "intestine 17wk": [{"id": "metadata_9606_SAMN03267782", "gene": 79648, "sample_id": "SAMN03267782", "full_rpkm": 0.320159, "exp_rpkm": 0.32, "exp_total": 76658, "project_desc": "PRJNA270632", "_version_": 1785734387344605200, "is_metadata": true, "is_sample": true, "taxid": 9606, "source_name": "intestine 17wk", "exp_Mcount": 9665.65}], "intestine 20wk": [{"id": "metadata_9606_SAMN03267766", "gene": 79648, "sample_id": "SAMN03267766", "full_rpkm": 0.756587, "exp_rpkm": 0.757, "exp_total": 77991, "project_desc": "PRJNA270632", "_version_": 1785734387344605198, "is_metadata": true, "is_sample": true, "taxid": 9606, "source_name": "intestine 20wk", "exp_Mcount": 4161.26}, {"id": "metadata_9606_SAMN03267769", "gene": 79648, "sample_id": "SAMN03267769", "full_rpkm": 0.743005, "exp_rpkm": 0.743, "exp_total": 71672, "project_desc": "PRJNA270632", "_version_": 1785734387344605199, "is_metadata": true, "is_sample": true, "taxid": 9606, "source_name": "intestine 20wk", "exp_Mcount": 3894.01}], "kidney 10wk": [{"id": "metadata_9606_SAMN03267784", "gene": 79648, "sample_id": "SAMN03267784", "full_rpkm": 1.00846, "exp_rpkm": 1.01, "exp_total": 118052, "project_desc": "PRJNA270632", "_version_": 1785734387344605197, "is_metadata": true, "is_sample": true, "taxid": 9606, "source_name": "kidney 10wk", "exp_Mcount": 4725.59}], "kidney 16wk": [{"id": "metadata_9606_SAMN03267772", "gene": 79648, "sample_id": "SAMN03267772", "full_rpkm": 0.434074, "exp_rpkm": 0.434, "exp_total": 164392, "project_desc": "PRJNA270632", "_version_": 1785734387344605196, "is_metadata": true, "is_sample": true, "taxid": 9606, "source_name": "kidney 16wk", "exp_Mcount": 15288.2}], "kidney 20wk": [{"id": "metadata_9606_SAMN03267777", "gene": 79648, "sample_id": "SAMN03267777", "full_rpkm": 0.167739, "exp_rpkm": 0.168, "exp_total": 42716, "project_desc": "PRJNA270632", "_version_": 1785734387344605195, "is_metadata": true, "is_sample": true, "taxid": 9606, "source_name": "kidney 20wk", "exp_Mcount": 10280.0}], "lung 10wk": [{"id": "metadata_9606_SAMN03267770", "gene": 79648, "sample_id": "SAMN03267770", "full_rpkm": 0.830332, "exp_rpkm": 0.83, "exp_total": 122442, "project_desc": "PRJNA270632", "_version_": 1785734387344605193, "is_metadata": true, "is_sample": true, "taxid": 9606, "source_name": "lung 10wk", "exp_Mcount": 5952.75}, {"id": "metadata_9606_SAMN03267767", "gene": 79648, "sample_id": "SAMN03267767", "full_rpkm": 0.888294, "exp_rpkm": 0.888, "exp_total": 115113, "project_desc": "PRJNA270632", "_version_": 1785734387344605194, "is_metadata": true, "is_sample": true, "taxid": 9606, "source_name": "lung 10wk", "exp_Mcount": 5231.26}], "lung 17wk": [{"id": "metadata_9606_SAMN03267778", "gene": 79648, "sample_id": "SAMN03267778", "full_rpkm": 0.850075, "exp_rpkm": 0.85, "exp_total": 131702, "project_desc": "PRJNA270632", "_version_": 1785734387344605191, "is_metadata": true, "is_sample": true, "taxid": 9606, "source_name": "lung 17wk", "exp_Mcount": 6254.23}, {"id": "metadata_9606_SAMN03267776", "gene": 79648, "sample_id": "SAMN03267776", "full_rpkm": 0.875534, "exp_rpkm": 0.876, "exp_total": 81188, "project_desc": "PRJNA270632", "_version_": 1785734387344605192, "is_metadata": true, "is_sample": true, "taxid": 9606, "source_name": "lung 17wk", "exp_Mcount": 3743.33}], "lung 20wk": [{"id": "metadata_9606_SAMN03267780", "gene": 79648, "sample_id": "SAMN03267780", "full_rpkm": 0.404948, "exp_rpkm": 0.405, "exp_total": 92992, "project_desc": "PRJNA270632", "_version_": 1785734387344605189, "is_metadata": true, "is_sample": true, "taxid": 9606, "source_name": "lung 20wk", "exp_Mcount": 9270.13}, {"id": "metadata_9606_SAMN03267768", "gene": 79648, "sample_id": "SAMN03267768", "full_rpkm": 0.76895, "exp_rpkm": 0.769, "exp_total": 121006, "project_desc": "PRJNA270632", "_version_": 1785734387344605190, "is_metadata": true, "is_sample": true, "taxid": 9606, "source_name": "lung 20wk", "exp_Mcount": 6352.54}], "stomach 10wk": [{"id": "metadata_9606_SAMN03267773", "gene": 79648, "sample_id": "SAMN03267773", "full_rpkm": 0.766668, "exp_rpkm": 0.767, "exp_total": 125005, "project_desc": "PRJNA270632", "_version_": 1785734387344605187, "is_metadata": true, "is_sample": true, "taxid": 9606, "source_name": "stomach 10wk", "exp_Mcount": 6582.02}, {"id": "metadata_9606_SAMN03267779", "gene": 79648, "sample_id": "SAMN03267779", "full_rpkm": 0.540968, "exp_rpkm": 0.541, "exp_total": 96942, "project_desc": "PRJNA270632", "_version_": 1785734387344605188, "is_metadata": true, "is_sample": true, "taxid": 9606, "source_name": "stomach 10wk", "exp_Mcount": 7234.02}], "stomach 16wk": [{"id": "metadata_9606_SAMN03267774", "gene": 79648, "sample_id": "SAMN03267774", "full_rpkm": 0.800057, "exp_rpkm": 0.8, "exp_total": 123263, "project_desc": "PRJNA270632", "_version_": 1785734387344605186, "is_metadata": true, "is_sample": true, "taxid": 9606, "source_name": "stomach 16wk", "exp_Mcount": 6219.43}], "stomach 18wk": [{"id": "metadata_9606_SAMN03267771", "gene": 79648, "sample_id": "SAMN03267771", "full_rpkm": 0.815386, "exp_rpkm": 0.815, "exp_total": 117565, "project_desc": "PRJNA270632", "_version_": 1785734387344605185, "is_metadata": true, "is_sample": true, "taxid": 9606, "source_name": "stomach 18wk", "exp_Mcount": 5820.42}], "stomach 20wk": [{"id": "metadata_9606_SAMN03267765", "gene": 79648, "sample_id": "SAMN03267765", "full_rpkm": 0.790625, "exp_rpkm": 0.791, "exp_total": 88028, "project_desc": "PRJNA270632", "_version_": 1785734387342508032, "is_metadata": true, "is_sample": true, "taxid": 9606, "source_name": "stomach 20wk", "exp_Mcount": 4494.58}, {"id": "metadata_9606_SAMN03267781", "gene": 79648, "sample_id": "SAMN03267781", "full_rpkm": 0.87337, "exp_rpkm": 0.873, "exp_total": 98791, "project_desc": "PRJNA270632", "_version_": 1785734387343556608, "is_metadata": true, "is_sample": true, "taxid": 9606, "source_name": "stomach 20wk", "exp_Mcount": 4566.24}, {"id": "metadata_9606_SAMN03267783", "gene": 79648, "sample_id": "SAMN03267783", "full_rpkm": 0.708686, "exp_rpkm": 0.709, "exp_total": 84347, "project_desc": "PRJNA270632", "_version_": 1785734387344605184, "is_metadata": true, "is_sample": true, "taxid": 9606, "source_name": "stomach 20wk", "exp_Mcount": 4804.58}]}
|
||
window.taxId = 9606
|
||
</script>
|
||
|
||
|
||
<div>
|
||
|
||
|
||
|
||
<select name="p" id="project-selector">
|
||
|
||
|
||
<option value="SRP051249" selected="selected" data-bioproject="PRJNA270632">
|
||
|
||
Tissue-specific circular RNA induction during human fetal development
|
||
|
||
</option>
|
||
|
||
|
||
|
||
<option value="SRP056969" data-bioproject="PRJNA280600">
|
||
|
||
RNA sequencing of total RNA from 20 human tissues
|
||
|
||
|
||
</option>
|
||
|
||
|
||
|
||
<option value="ERP003613" data-bioproject="PRJEB4337">
|
||
|
||
HPA RNA-seq normal tissues
|
||
|
||
|
||
</option>
|
||
|
||
|
||
|
||
</select>
|
||
|
||
|
||
|
||
<ul id="project-summary">
|
||
<li id="project-summary-title">Project title:
|
||
|
||
Tissue-specific circular RNA induction during human fetal development
|
||
|
||
</li>
|
||
|
||
|
||
<li id="project-summary-desc">Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA</li>
|
||
|
||
|
||
|
||
<li id="project-summary-bioprojects">BioProject: <a href="/bioproject/PRJNA270632/">PRJNA270632</a>
|
||
</li>
|
||
|
||
<li id="project-summary-pubs">Publication:
|
||
|
||
|
||
<span><a href="/pubmed/26076956/">PMID 26076956</a></span>
|
||
|
||
</li>
|
||
|
||
|
||
<li id="project-summary-analysis-date">Analysis date: Mon Apr 2 22:54:59 2018</li>
|
||
|
||
</ul>
|
||
|
||
|
||
|
||
<div id="gene-expr-details" class="expression-chart"></div>
|
||
|
||
</div>
|
||
</div>
|
||
</div>
|
||
<script type="text/javascript" src="https://www.gstatic.com/charts/loader.js"></script>
|
||
<script type="text/javascript">
|
||
google.charts.load('current', {
|
||
'packages':[ 'corechart']
|
||
});
|
||
|
||
</script>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="rprt-section gene-bibliography">
|
||
<section class="rprt-section-header" id="bibliography"><h2 id="header-bibliography"><a href="#" class="jig-ncbitoggler-open" data-jigconfig="targets: '.gene-bibliography .rprt-section-body'"><span class="ui-ncbitoggler-master-text">Bibliography</span></a></h2><div class="rprt-section-tools"><a href="#top" title="Go to the top of the page" class="gene-top-page"><span>Go to the top of the page</span></a><a href="/books/NBK3841/#EntrezGene.Bibliography" title="Help" class="gene-section-help"><span>Help</span></a></div></section>
|
||
<div class="rprt-section-body" style="">
|
||
<div class="generif-pubmed">
|
||
<h3 id="relatedarticlesinpubmed">
|
||
<a href="#" class="jig-ncbitoggler-open">Related articles in PubMed</a>
|
||
</h3>
|
||
<div class="generefbl-link">
|
||
<ol class="generef-link">
|
||
<li>
|
||
<a href="/pubmed/19829069/" ref="ordinalpos=1&ncbi_uid=79648&link_uid=19829069">The linkage of chromatin remodeling to genome maintenance: contribution from a human disease gene BRIT1/MCPH1.</a>
|
||
<span class="pubmed-auth-date"> Peng G, <em>et al</em>. Epigenetics, 2009 Oct 1. PMID 19829069, <span class="pubmed-pmc-link"><a href="/pmc/articles/PMC3419620/" ref="ordinalpos=0&ncbi_uid=79648&link_uid=PMC3419620">Free PMC Article</a></span></span>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/26912502/" ref="ordinalpos=2&ncbi_uid=79648&link_uid=26912502">The Impact of rs3762271 and rs930557 Polymorphisms of ASPM and MCPH1 Genes on the Anatomy and Function of the Brain.</a>
|
||
<span class="pubmed-auth-date"> Pierzak-Sominka J, <em>et al</em>. Biol Res Nurs, 2016 Jul. PMID 26912502</span>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/26870219/" ref="ordinalpos=3&ncbi_uid=79648&link_uid=26870219">Overexpression of MCPH1 inhibits uncontrolled cell growth by promoting cell apoptosis and arresting the cell cycle in S and G2/M phase in lung cancer cells.</a>
|
||
<span class="pubmed-auth-date"> Zhou L, <em>et al</em>. Oncol Lett, 2016 Jan. PMID 26870219, <span class="pubmed-pmc-link"><a href="/pmc/articles/PMC4727150/" ref="ordinalpos=0&ncbi_uid=79648&link_uid=PMC4727150">Free PMC Article</a></span></span>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/26820313/" ref="ordinalpos=4&ncbi_uid=79648&link_uid=26820313">Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility.</a>
|
||
<span class="pubmed-auth-date"> Mantere T, <em>et al</em>. PLoS Genet, 2016 Jan. PMID 26820313, <span class="pubmed-pmc-link"><a href="/pmc/articles/PMC4731077/" ref="ordinalpos=0&ncbi_uid=79648&link_uid=PMC4731077">Free PMC Article</a></span></span>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/26651848/" ref="ordinalpos=5&ncbi_uid=79648&link_uid=26651848">High-Density Genetic Mapping Identifies New Susceptibility Variants in Sarcoidosis Phenotypes and Shows Genomic-driven Phenotypic Differences.</a>
|
||
<span class="pubmed-auth-date"> Rivera NV, <em>et al</em>. Am J Respir Crit Care Med, 2016 May 1. PMID 26651848, <span class="pubmed-pmc-link"><a href="/pmc/articles/PMC4872654/" ref="ordinalpos=0&ncbi_uid=79648&link_uid=PMC4872654">Free PMC Article</a></span></span>
|
||
</li>
|
||
</ol>
|
||
<p class="see-all-pm">
|
||
<a href="/pubmed?LinkName=gene_pubmed&from_uid=79648" title="See all 149 citations in Pubmed">See all (149) citations in PubMed</a>
|
||
</p>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="generif-pubmed generif">
|
||
<h3 id="generifsgenereferencesintofunctions">
|
||
<a href="#" class="jig-ncbitoggler-open">GeneRIFs: Gene References Into Functions</a>
|
||
</h3>
|
||
<div>
|
||
<a href="/gene/about-generif" class="whatisthis">What's a GeneRIF?</a>
|
||
<div class="generefbl-link">
|
||
<ol class="generef-link">
|
||
<li class="gene-rif-popper">
|
||
<a href="/pubmed/35456440" target="_blank" class="gene-rif-popper" ref="ordinalpos=1&ncbi_uid=79648&link_uid=35456440">MCPH1: A Novel Case Report and a Review of the Literature.</a>
|
||
<div id="gene-popper1" class="gene-rif-popper">Title: MCPH1: A Novel Case Report and a Review of the Literature.</div>
|
||
</li>
|
||
<li class="gene-rif-popper">
|
||
<a href="/pubmed/35281599" target="_blank" class="gene-rif-popper" ref="ordinalpos=1&ncbi_uid=79648&link_uid=35281599">Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families.</a>
|
||
<div id="gene-popper2" class="gene-rif-popper">Title: Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families.</div>
|
||
</li>
|
||
<li class="gene-rif-popper">
|
||
<a href="/pubmed/34705666" target="_blank" class="gene-rif-popper" ref="ordinalpos=1&ncbi_uid=79648&link_uid=34705666">MCPH1, beyond its role deciding the brain size.</a>
|
||
<div id="gene-popper3" class="gene-rif-popper">Title: MCPH1, beyond its role deciding the brain size.</div>
|
||
</li>
|
||
<li class="gene-rif-popper">
|
||
<a href="/pubmed/34191836" target="_blank" class="gene-rif-popper" ref="ordinalpos=1&ncbi_uid=79648&link_uid=34191836">Tone and genes: New cross-linguistic data and methods support the weak negative effect of the ""derived"" allele of ASPM on tone, but not of Microcephalin.</a>
|
||
<div id="gene-popper4" class="gene-rif-popper">Title: Tone and genes: New cross-linguistic data and methods support the weak negative effect of the "derived" allele of ASPM on tone, but not of Microcephalin.</div>
|
||
</li>
|
||
<li class="gene-rif-popper">
|
||
<a href="/pubmed/32556427" target="_blank" class="gene-rif-popper" ref="ordinalpos=1&ncbi_uid=79648&link_uid=32556427">Investigation of promoter methylation of MCPH1 gene in circulating cell-free DNA of brain tumor patients.</a>
|
||
<div id="gene-popper5" class="gene-rif-popper">Title: Investigation of promoter methylation of MCPH1 gene in circulating cell-free DNA of brain tumor patients.</div>
|
||
</li>
|
||
<li class="gene-rif-popper">
|
||
<a href="/pubmed/33006227" target="_blank" class="gene-rif-popper" ref="ordinalpos=1&ncbi_uid=79648&link_uid=33006227">BRIT-1 expression and its relationship with PARP-1 and CAF-1/p60 in cutaneous melanoma.</a>
|
||
<div id="gene-popper6" class="gene-rif-popper">Title: BRIT-1 expression and its relationship with PARP-1 and CAF-1/p60 in cutaneous melanoma.</div>
|
||
</li>
|
||
<li class="gene-rif-popper">
|
||
<a href="/pubmed/32294449" target="_blank" class="gene-rif-popper" ref="ordinalpos=1&ncbi_uid=79648&link_uid=32294449">Cell Metabolic Alterations due to Mcph1 Mutation in Microcephaly.</a>
|
||
<div id="gene-popper7" class="gene-rif-popper">Title: Cell Metabolic Alterations due to Mcph1 Mutation in Microcephaly.</div>
|
||
</li>
|
||
<li class="gene-rif-popper">
|
||
<a href="/pubmed/32276518" target="_blank" class="gene-rif-popper" ref="ordinalpos=1&ncbi_uid=79648&link_uid=32276518">MCPH1 Lack of Function Enhances Mitotic Cell Sensitivity Caused by Catalytic Inhibitors of Topo II.</a>
|
||
<div id="gene-popper8" class="gene-rif-popper">Title: MCPH1 Lack of Function Enhances Mitotic Cell Sensitivity Caused by Catalytic Inhibitors of Topo II.</div>
|
||
</li>
|
||
<li class="gene-rif-popper">
|
||
<a href="/pubmed/33203878" target="_blank" class="gene-rif-popper" ref="ordinalpos=1&ncbi_uid=79648&link_uid=33203878">Microcephalin 1/BRIT1-TRF2 interaction promotes telomere replication and repair, linking telomere dysfunction to primary microcephaly.</a>
|
||
<div id="gene-popper9" class="gene-rif-popper">Title: Microcephalin 1/BRIT1-TRF2 interaction promotes telomere replication and repair, linking telomere dysfunction to primary microcephaly.</div>
|
||
</li>
|
||
<li class="gene-rif-popper">
|
||
<a href="/pubmed/32681070" target="_blank" class="gene-rif-popper" ref="ordinalpos=1&ncbi_uid=79648&link_uid=32681070">Analysis of the ""centrosome-ome"" identifies MCPH1 deletion as a cause of centrosome amplification in human cancer.</a>
|
||
<div id="gene-popper10" class="gene-rif-popper">Title: Analysis of the "centrosome-ome" identifies MCPH1 deletion as a cause of centrosome amplification in human cancer.</div>
|
||
</li>
|
||
</ol>
|
||
</div>
|
||
<div class="submit-genrif">
|
||
<span>Submit:</span>
|
||
<a href="/gene/submit-generif/?geneId=79648&sym=MCPH1&name=microcephalin 1&org=Homo sapiens">New GeneRIF</a>
|
||
<a href="/RefSeq/update.cgi?geneid=79648&symbol=MCPH1;task=fixpub">Correction</a>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gene?db=gene&report=generif&term=79648" class="seeall-generif">See all GeneRIFs (83)</a>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="rprt-section gene-phenotypes">
|
||
<section class="rprt-section-header" id="phenotypes">
|
||
<h2 id="header-phenotypes">
|
||
<a href="#" class="jig-ncbitoggler-open" data-jigconfig="targets: '.gene-phenotypes .rprt-section-body'">
|
||
<span class="ui-ncbitoggler-master-text">Phenotypes</span>
|
||
</a>
|
||
</h2>
|
||
<div class="rprt-section-tools">
|
||
<a href="#top" title="Go to the top of the page" class="gene-top-page">
|
||
<span>Go to the top of the page</span>
|
||
</a>
|
||
<a href="/books/NBK3841/#EntrezGene.Phenotype" title="Help" class="gene-section-help">
|
||
<span>Help</span>
|
||
</a>
|
||
</div>
|
||
</section>
|
||
<div class="rprt-section-body info-phenotype">
|
||
<p class="nochild-link">
|
||
<a href="/gtr/tests/?term=MCPH1[gene]">Find tests for this gene in the NIH Genetic Testing Registry (GTR)</a>
|
||
</p>
|
||
<p class="nochild-link">
|
||
<a href="/gap/PheGenI?tab=1&gene=79648">Review eQTL and phenotype association data in this region using PheGenI</a>
|
||
</p>
|
||
<div>
|
||
<h3 id="associatedconditions">Associated conditions</h3>
|
||
<table class="jig-ncbigrid gtr-associated-cond">
|
||
<thead>
|
||
<tr>
|
||
<th class="description">Description</th>
|
||
<th>Tests</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
<tr>
|
||
<td>
|
||
<a href="/gtr/conditions/C1855081" ref="ncbi_uid=79648&link_uid=C1855081">Microcephaly 1, primary, autosomal recessive</a>
|
||
<div class="gtr-associated-cond-extra">
|
||
<span class="gtr-associated-cond-extra-i">MedGen: <a href="/medgen/C1855081" ref="ncbi_uid=79648&link_uid=C1855081">C1855081</a></span>
|
||
<span class="gtr-associated-cond-extra-i">OMIM: <a href="https://www.ncbi.nlm.nih.gov/omim/251200" ref="ncbi_uid=79648"> 251200</a></span>
|
||
<span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span>
|
||
</div>
|
||
</td>
|
||
<td>
|
||
<a href="/gtr/tests/?term=C1855081[DISCUI]&condition=C1855081&compare_labs=1" ref="ncbi_uid=79648">Compare labs</a>
|
||
</td>
|
||
</tr>
|
||
</tbody>
|
||
</table>
|
||
</div>
|
||
<div>
|
||
<h3 id="ebigwascatalog">EBI GWAS Catalog</h3>
|
||
<table class="jig-ncbigrid gtr-associated-cond" data-jigconfig="isPageable: true, pageSize: 10">
|
||
<thead>
|
||
<tr>
|
||
<th class="description">Description</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
<tr>
|
||
<td>Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.<div class="gtr-associated-cond-extra"><div class="gtr-associated-cond-extra-c"><span style="color:#000;">EBI GWAS Catalog</span><div><span class="gtr-associated-cond-extra-i"><a href="https://www.ebi.ac.uk/gwas/publications/24483146">EBI GWAS Catalog</a></span><span class="gtr-associated-cond-extra-i"><a href="/pubmed/24483146">PubMed</a></span></div></div></div></td>
|
||
</tr>
|
||
<tr>
|
||
<td>Genome-wide association study does not reveal major genetic determinants for anti-cytomegalovirus antibody response.<div class="gtr-associated-cond-extra"><div class="gtr-associated-cond-extra-c"><span style="color:#000;">EBI GWAS Catalog</span><div><span class="gtr-associated-cond-extra-i"><a href="https://www.ebi.ac.uk/gwas/publications/21993531">EBI GWAS Catalog</a></span><span class="gtr-associated-cond-extra-i"><a href="/pubmed/21993531">PubMed</a></span></div></div></div></td>
|
||
</tr>
|
||
<tr>
|
||
<td>Genome-wide association study of epirubicin-induced leukopenia in Japanese patients.<div class="gtr-associated-cond-extra"><div class="gtr-associated-cond-extra-c"><span style="color:#000;">EBI GWAS Catalog</span><div><span class="gtr-associated-cond-extra-i"><a href="https://www.ebi.ac.uk/gwas/publications/21799462">EBI GWAS Catalog</a></span><span class="gtr-associated-cond-extra-i"><a href="/pubmed/21799462">PubMed</a></span></div></div></div></td>
|
||
</tr>
|
||
</tbody>
|
||
</table>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="rprt-section gene-variation">
|
||
<section class="rprt-section-header" id="variation">
|
||
<h2 id="header-variation">
|
||
<a href="#" class="jig-ncbitoggler-open" data-jigconfig="targets: '.gene-variation .rprt-section-body'">
|
||
<span class="ui-ncbitoggler-master-text">Variation</span>
|
||
</a>
|
||
</h2>
|
||
<div class="rprt-section-tools">
|
||
<a href="#top" title="Go to the top of the page" class="gene-top-page">
|
||
<span>Go to the top of the page</span>
|
||
</a>
|
||
<a href="/books/NBK3841/#EntrezGene.variation" title="Help" class="gene-section-help">
|
||
<span>Help</span>
|
||
</a>
|
||
</div>
|
||
</section>
|
||
<div class="rprt-section-body">
|
||
<p class="nochild-link">
|
||
<a href="/clinvar/?term=MCPH1[gene]" ref="log$=recordlinks">See variants in ClinVar</a>
|
||
</p>
|
||
<p class="nochild-link">
|
||
<a href="/dbvar?LinkName=gene_dbvar&from_uid=79648" ref="log$=recordlinks">See studies and variants in dbVar</a>
|
||
</p>
|
||
<p class="nochild-link">
|
||
<a href="/variation/view/?q=79648[geneid]&assm=GCF_000001405.25" ref="log$=recordlinks" data-genome-browser-link-sort="3" class="genome-browser-link" data-gblink-text="Variation Viewer (GRCh37.p13)">See Variation Viewer (GRCh37.p13)</a>
|
||
</p>
|
||
<p class="nochild-link">
|
||
<a href="/variation/view/?q=79648[geneid]" ref="log$=recordlinks" data-genome-browser-link-sort="3" class="genome-browser-link" data-gblink-text="Variation Viewer (GRCh38)">See Variation Viewer (GRCh38)</a>
|
||
</p>
|
||
<set></set>
|
||
<set></set>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="rprt-section gene-pathways">
|
||
<section class="rprt-section-header" id="pathways">
|
||
<h2 id="header-pathways">
|
||
<a href="#" class="jig-ncbitoggler-open" data-jigconfig="targets: '.gene-pathways .rprt-section-body'">
|
||
<span class="ui-ncbitoggler-master-text">Pathways from PubChem</span>
|
||
</a>
|
||
</h2>
|
||
<div class="rprt-section-tools">
|
||
<a href="#top" title="Go to the top of the page" class="gene-top-page">
|
||
<span>Go to the top of the page</span>
|
||
</a>
|
||
</div>
|
||
</section>
|
||
<div class="rprt-section-body">
|
||
<ul class="geneinfo-subsec infopathway">
|
||
<iframe title="Pathways in which the gene target is involved" class="pubchem-widget" scrolling="no" src="https://pubchem.ncbi.nlm.nih.gov/gene/79648#section=Pathways&embed=true&hide_all_headings=true&page_size=25" style="border: 0; width: 100%;"></iframe>
|
||
<script type="text/javascript" src="https://pubchem.ncbi.nlm.nih.gov/pcfe/libs/iframeResizer.min.js"></script>
|
||
<script type="text/javascript">iFrameResize({log: false, checkOrigin: false}, '.pubchem-widget')</script>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="rprt-section gene-interactions">
|
||
<section class="rprt-section-header" id="interactions">
|
||
<h2 id="header-interactions">
|
||
<a href="#" class="jig-ncbitoggler-open" data-jigconfig="targets: '.gene-interactions .rprt-section-body'">
|
||
<span class="ui-ncbitoggler-master-text">Interactions</span>
|
||
</a>
|
||
</h2>
|
||
<div class="rprt-section-tools">
|
||
<a href="#top" title="Go to the top of the page" class="gene-top-page">
|
||
<span>Go to the top of the page</span>
|
||
</a>
|
||
<a href="/books/NBK3841/#EntrezGene.Interactions" title="Help" class="gene-section-help">
|
||
<span>Help</span>
|
||
</a>
|
||
</div>
|
||
</section>
|
||
<div class="rprt-section-body">
|
||
<table summary="Gene Interaction" class="jig-ncbiservergrid" data-jigconfig="webservice:'/gene/79648/data/interaction/',webserviceParams: 'p$l=Ajax&p$debugoutput=off', isServersideLoad:true, isServersidePaging: true,isServersidePagingCached: true,pageSize:25">
|
||
<thead>
|
||
<tr>
|
||
<th id="inter-prod">Products</th>
|
||
<th id="inter-interactant">Interactant</th>
|
||
<th id="inter-otherGene">Other Gene</th>
|
||
<th id="inter-compl">Complex</th>
|
||
<th id="inter-source">Source</th>
|
||
<th id="inter-pubs">Pubs</th>
|
||
<th id="inter-desc">Description</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody></tbody>
|
||
</table>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="rprt-section gene-general-gene-info">
|
||
<section class="rprt-section-header" id="general-gene-info">
|
||
<h2 id="header-general-gene-info">
|
||
<a href="#" class="jig-ncbitoggler-open" data-jigconfig="targets: '.gene-general-gene-info .rprt-section-body'">
|
||
<span class="ui-ncbitoggler-master-text">General gene information</span>
|
||
</a>
|
||
</h2>
|
||
<div class="rprt-section-tools">
|
||
<a href="#top" title="Go to the top of the page" class="gene-top-page">
|
||
<span>Go to the top of the page</span>
|
||
</a>
|
||
<a href="/books/NBK3841/#EntrezGene.General_Gene_Information" title="Help" class="gene-section-help">
|
||
<span>Help</span>
|
||
</a>
|
||
</div>
|
||
</section>
|
||
|
||
<div class="rprt-section-body" style="">
|
||
<div id="gene-markers">
|
||
<h3 id="markers">
|
||
<a class="jig-ncbitoggler">Markers</a>
|
||
</h3>
|
||
<div>
|
||
<ul class="marker odd">
|
||
<li class="marker">WIAF-2168 (e-PCR)<ul class="marker-link"><li><a href="https://www.ncbi.nlm.nih.gov/probe?term=71682%20%5BUniSTS%20ID%5D" ref="ordinalpos=1&ncbi_uid=79648&link_uid=71682">UniSTS:71682</a></li></ul></li>
|
||
</ul>
|
||
<ul class="marker ">
|
||
<li class="marker">G19225 (e-PCR)<ul class="marker-link"><li><a href="https://www.ncbi.nlm.nih.gov/probe?term=5892%20%5BUniSTS%20ID%5D" ref="ordinalpos=1&ncbi_uid=79648&link_uid=5892">UniSTS:5892</a></li></ul></li>
|
||
</ul>
|
||
<ul class="marker odd">
|
||
<li class="marker">SHGC-148851 (e-PCR)<ul class="marker-link"><li><a href="https://www.ncbi.nlm.nih.gov/probe?term=176645%20%5BUniSTS%20ID%5D" ref="ordinalpos=1&ncbi_uid=79648&link_uid=176645">UniSTS:176645</a></li></ul></li>
|
||
</ul>
|
||
<ul class="marker ">
|
||
<li class="marker">D11S2921 (e-PCR)<ul class="marker-link"><li><a href="https://www.ncbi.nlm.nih.gov/probe?term=152074%20%5BUniSTS%20ID%5D" ref="ordinalpos=1&ncbi_uid=79648&link_uid=152074">UniSTS:152074</a></li></ul></li>
|
||
</ul>
|
||
<ul class="marker odd">
|
||
<li class="marker">SHGC-142612 (e-PCR)<ul class="marker-link"><li><a href="https://www.ncbi.nlm.nih.gov/probe?term=171549%20%5BUniSTS%20ID%5D" ref="ordinalpos=1&ncbi_uid=79648&link_uid=171549">UniSTS:171549</a></li></ul></li>
|
||
</ul>
|
||
<ul class="marker ">
|
||
<li class="marker">STS-AA011655 (e-PCR)<ul class="marker-link"><li><a href="https://www.ncbi.nlm.nih.gov/probe?term=46128%20%5BUniSTS%20ID%5D" ref="ordinalpos=1&ncbi_uid=79648&link_uid=46128">UniSTS:46128</a></li></ul></li>
|
||
</ul>
|
||
<ul class="marker odd">
|
||
<li class="marker">RH48380 (e-PCR)<ul class="marker-link"><li><a href="https://www.ncbi.nlm.nih.gov/probe?term=40532%20%5BUniSTS%20ID%5D" ref="ordinalpos=1&ncbi_uid=79648&link_uid=40532">UniSTS:40532</a></li></ul></li>
|
||
</ul>
|
||
<ul class="marker ">
|
||
<li class="marker">RH121218 (e-PCR)<ul class="marker-link"><li><a href="https://www.ncbi.nlm.nih.gov/probe?term=138329%20%5BUniSTS%20ID%5D" ref="ordinalpos=1&ncbi_uid=79648&link_uid=138329">UniSTS:138329</a></li></ul></li>
|
||
</ul>
|
||
<ul class="marker odd">
|
||
<li class="marker">RH69270 (e-PCR)<ul class="marker-link"><li><a href="https://www.ncbi.nlm.nih.gov/probe?term=39001%20%5BUniSTS%20ID%5D" ref="ordinalpos=1&ncbi_uid=79648&link_uid=39001">UniSTS:39001</a></li></ul></li>
|
||
</ul>
|
||
<ul class="marker ">
|
||
<li class="marker">RH93262 (e-PCR)<ul class="marker-link"><li><a href="https://www.ncbi.nlm.nih.gov/probe?term=84317%20%5BUniSTS%20ID%5D" ref="ordinalpos=1&ncbi_uid=79648&link_uid=84317">UniSTS:84317</a></li></ul></li>
|
||
</ul>
|
||
<ul class="marker odd">
|
||
<li class="marker">D10S16 (e-PCR)<ul class="marker-link"><li><a href="https://www.ncbi.nlm.nih.gov/probe?term=155756%20%5BUniSTS%20ID%5D" ref="ordinalpos=1&ncbi_uid=79648&link_uid=155756">UniSTS:155756</a></li></ul></li>
|
||
</ul>
|
||
<ul class="marker ">
|
||
<li class="marker">G66160 (e-PCR)<ul class="marker-link"><li><a href="https://www.ncbi.nlm.nih.gov/probe?term=229996%20%5BUniSTS%20ID%5D" ref="ordinalpos=1&ncbi_uid=79648&link_uid=229996">UniSTS:229996</a></li></ul></li>
|
||
</ul>
|
||
<ul class="marker odd">
|
||
<li class="marker">SHGC-36472 (e-PCR)<ul class="marker-link"><li><a href="https://www.ncbi.nlm.nih.gov/probe?term=70278%20%5BUniSTS%20ID%5D" ref="ordinalpos=1&ncbi_uid=79648&link_uid=70278">UniSTS:70278</a></li></ul></li>
|
||
</ul>
|
||
<ul class="marker ">
|
||
<li class="marker">RH120360 (e-PCR)<ul class="marker-link"><li><a href="https://www.ncbi.nlm.nih.gov/probe?term=132501%20%5BUniSTS%20ID%5D" ref="ordinalpos=1&ncbi_uid=79648&link_uid=132501">UniSTS:132501</a></li></ul></li>
|
||
</ul>
|
||
<ul class="marker odd">
|
||
<li class="marker">D8S1413E (e-PCR)<ul class="marker-link"><li><a href="https://www.ncbi.nlm.nih.gov/probe?term=56472%20%5BUniSTS%20ID%5D" ref="ordinalpos=1&ncbi_uid=79648&link_uid=56472">UniSTS:56472</a></li></ul></li>
|
||
</ul>
|
||
<ul class="marker ">
|
||
<li class="marker">D8S2077 (e-PCR)<ul class="marker-link"><li><a href="https://www.ncbi.nlm.nih.gov/probe?term=70809%20%5BUniSTS%20ID%5D" ref="ordinalpos=1&ncbi_uid=79648&link_uid=70809">UniSTS:70809</a></li></ul></li>
|
||
</ul>
|
||
<ul class="marker odd">
|
||
<li class="marker">RH47768 (e-PCR)<ul class="marker-link"><li><a href="https://www.ncbi.nlm.nih.gov/probe?term=71068%20%5BUniSTS%20ID%5D" ref="ordinalpos=1&ncbi_uid=79648&link_uid=71068">UniSTS:71068</a></li></ul></li>
|
||
</ul>
|
||
<ul class="marker ">
|
||
<li class="marker">RH75428 (e-PCR)<ul class="marker-link"><li><a href="https://www.ncbi.nlm.nih.gov/probe?term=84388%20%5BUniSTS%20ID%5D" ref="ordinalpos=1&ncbi_uid=79648&link_uid=84388">UniSTS:84388</a></li></ul></li>
|
||
</ul>
|
||
<ul class="marker odd">
|
||
<li class="marker">A004X20 (e-PCR)<ul class="marker-link"><li><a href="https://www.ncbi.nlm.nih.gov/probe?term=60844%20%5BUniSTS%20ID%5D" ref="ordinalpos=1&ncbi_uid=79648&link_uid=60844">UniSTS:60844</a></li></ul></li>
|
||
</ul>
|
||
<ul class="marker ">
|
||
<li class="marker">SHGC-77726 (e-PCR)<ul class="marker-link"><li><a href="https://www.ncbi.nlm.nih.gov/probe?term=95929%20%5BUniSTS%20ID%5D" ref="ordinalpos=1&ncbi_uid=79648&link_uid=95929">UniSTS:95929</a></li></ul></li>
|
||
</ul>
|
||
<ul class="marker odd">
|
||
<li class="marker">SHGC-84494 (e-PCR)<ul class="marker-link"><li><a href="https://www.ncbi.nlm.nih.gov/probe?term=102842%20%5BUniSTS%20ID%5D" ref="ordinalpos=1&ncbi_uid=79648&link_uid=102842">UniSTS:102842</a></li></ul></li>
|
||
</ul>
|
||
<ul class="marker ">
|
||
<li class="marker">G59875 (e-PCR)<ul class="marker-link"><li><a href="https://www.ncbi.nlm.nih.gov/probe?term=137158%20%5BUniSTS%20ID%5D" ref="ordinalpos=1&ncbi_uid=79648&link_uid=137158">UniSTS:137158</a></li></ul></li>
|
||
</ul>
|
||
<ul class="marker odd">
|
||
<li class="marker">D8S1935 (e-PCR)<ul class="marker-link"><li><a href="https://www.ncbi.nlm.nih.gov/probe?term=39908%20%5BUniSTS%20ID%5D" ref="ordinalpos=1&ncbi_uid=79648&link_uid=39908">UniSTS:39908</a></li></ul></li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div></div>
|
||
|
||
<div class="infosec">
|
||
<h3 id="homology">
|
||
<a class="jig-ncbitoggler-open">Homology</a>
|
||
</h3>
|
||
<ul class="geneinfo-subsec">
|
||
<li>
|
||
<a href="/gene/79648/ortholog/" id="ncbi-ortholog-link">NCBI Orthologs</a>
|
||
</li>
|
||
<a href="https://www.orthodb.org/?ncbi=79648" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=8178" target="_blank">
|
||
Orthologs from OrthoDB
|
||
</a>
|
||
</ul>
|
||
</div>
|
||
|
||
<!--<component id="Gene_InfoPathway"/>-->
|
||
|
||
<div class="infosec info-comment" id="info-comment">
|
||
<h3 id="CloneNames">
|
||
<a class="jig-ncbitoggler-open">Clone Names</a>
|
||
</h3>
|
||
<ul class="geneinfo-subsec">
|
||
<li>FLJ12847 </li>
|
||
</ul>
|
||
</div>
|
||
|
||
<div class="gene-ontology infosec">
|
||
<h3 id="gene-ontology">
|
||
<a class="jig-ncbitoggler-open">
|
||
<span>Gene Ontology</span>
|
||
</a>
|
||
<a target="_blank" href="http://www.ebi.ac.uk/GOA" class="g-ontology-src" title="Provided by GOA">Provided by GOA</a>
|
||
</h3>
|
||
<div class="ontology-tables">
|
||
<div class="ui-ncbigrid-outer-div">
|
||
<div class="ui-ncbigrid-inner-div">
|
||
<table class="jig-ncbigrid" data-jigconfig="isPageable: true, pageSize : 25, isSortable: true, columnTypes: ['str', 'str', 'str']">
|
||
<thead>
|
||
<tr>
|
||
<th class="col1">Function</th>
|
||
<th style="width:12%;">Evidence Code</th>
|
||
<th style="width:10%;">Pubs</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
<tr>
|
||
<td headers="ont-func">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0042802">enables identical protein binding</a>
|
||
</td>
|
||
<td headers="ont-evi- ont-evi-code-">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-1-0', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IPI</a>
|
||
<div id="evidence-code-1-0" class="ecode">Inferred from Physical Interaction<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi- ont-pub-"><a href="/pubmed/18660752" target="_blank" title="PubMed ID 18660752" ref="ordinalpos=1&ncbi_uid=79648&link_uid=18660752">PubMed</a> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-func">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0005515">enables protein binding</a>
|
||
</td>
|
||
<td headers="ont-evi- ont-evi-code-">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-2-0', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IPI</a>
|
||
<div id="evidence-code-2-0" class="ecode">Inferred from Physical Interaction<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi- ont-pub-"><a href="/pubmed/18660752,19287395,28514442,33961781" target="_blank" title="PubMed ID 18660752,19287395,28514442,33961781" ref="ordinalpos=1&ncbi_uid=79648&link_uid=18660752,19287395,28514442,33961781">PubMed</a> </td>
|
||
</tr>
|
||
</tbody>
|
||
</table>
|
||
</div>
|
||
</div>
|
||
<div class="ui-ncbigrid-outer-div">
|
||
<div class="ui-ncbigrid-inner-div">
|
||
<table class="jig-ncbigrid" data-jigconfig="isPageable: true, pageSize : 25, isSortable: true, columnTypes: ['str', 'str', 'str']">
|
||
<thead>
|
||
<tr>
|
||
<th class="col1">Process</th>
|
||
<th style="width:12%;">Evidence Code</th>
|
||
<th style="width:10%;">Pubs</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
<tr>
|
||
<td headers="ont-comp">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0060348">involved_in bone development</a>
|
||
</td>
|
||
<td headers="ont-evi-2 ont-evi-code-2">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-1-1', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IEA</a>
|
||
<div id="evidence-code-1-1" class="ecode">Inferred from Electronic Annotation<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi-2 ont-pub-2"> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-comp">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0021987">involved_in cerebral cortex development</a>
|
||
</td>
|
||
<td headers="ont-evi-2 ont-evi-code-2">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-2-1', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IEA</a>
|
||
<div id="evidence-code-2-1" class="ecode">Inferred from Electronic Annotation<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi-2 ont-pub-2"> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-comp">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0000132">involved_in establishment of mitotic spindle orientation</a>
|
||
</td>
|
||
<td headers="ont-evi-2 ont-evi-code-2">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-3-1', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IEA</a>
|
||
<div id="evidence-code-3-1" class="ecode">Inferred from Electronic Annotation<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi-2 ont-pub-2"> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-comp">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0000278">involved_in mitotic cell cycle</a>
|
||
</td>
|
||
<td headers="ont-evi-2 ont-evi-code-2">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-4-1', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IBA</a>
|
||
<div id="evidence-code-4-1" class="ecode">Inferred from Biological aspect of Ancestor<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi-2 ont-pub-2"> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-comp">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0000122">involved_in negative regulation of transcription by RNA polymerase II</a>
|
||
</td>
|
||
<td headers="ont-evi-2 ont-evi-code-2">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-5-1', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IDA</a>
|
||
<div id="evidence-code-5-1" class="ecode">Inferred from Direct Assay<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi-2 ont-pub-2"><a href="/pubmed/12837246" target="_blank" title="PubMed ID 12837246" ref="ordinalpos=1&ncbi_uid=79648&link_uid=12837246">PubMed</a> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-comp">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0097150">involved_in neuronal stem cell population maintenance</a>
|
||
</td>
|
||
<td headers="ont-evi-2 ont-evi-code-2">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-6-1', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IEA</a>
|
||
<div id="evidence-code-6-1" class="ecode">Inferred from Electronic Annotation<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi-2 ont-pub-2"> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-comp">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0071539">involved_in protein localization to centrosome</a>
|
||
</td>
|
||
<td headers="ont-evi-2 ont-evi-code-2">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-7-1', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IEA</a>
|
||
<div id="evidence-code-7-1" class="ecode">Inferred from Electronic Annotation<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi-2 ont-pub-2"> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-comp">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0046605">involved_in regulation of centrosome cycle</a>
|
||
</td>
|
||
<td headers="ont-evi-2 ont-evi-code-2">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-8-1', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IEA</a>
|
||
<div id="evidence-code-8-1" class="ecode">Inferred from Electronic Annotation<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi-2 ont-pub-2"> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-comp">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0060623">involved_in regulation of chromosome condensation</a>
|
||
</td>
|
||
<td headers="ont-evi-2 ont-evi-code-2">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-9-1', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IEA</a>
|
||
<div id="evidence-code-9-1" class="ecode">Inferred from Electronic Annotation<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi-2 ont-pub-2"> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-comp">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0050727">involved_in regulation of inflammatory response</a>
|
||
</td>
|
||
<td headers="ont-evi-2 ont-evi-code-2">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-10-1', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IEA</a>
|
||
<div id="evidence-code-10-1" class="ecode">Inferred from Electronic Annotation<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi-2 ont-pub-2"> </td>
|
||
</tr>
|
||
</tbody>
|
||
</table>
|
||
</div>
|
||
</div>
|
||
<div class="ui-ncbigrid-outer-div">
|
||
<div class="ui-ncbigrid-inner-div">
|
||
<table class="jig-ncbigrid" data-config="isPageable: true, pageSize : 25, isSortable: true, columnTypes: ['str', 'str', 'str']">
|
||
<thead>
|
||
<tr>
|
||
<th class="col1">Component</th>
|
||
<th style="width:12%;">Evidence Code</th>
|
||
<th style="width:10%;">Pubs</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
<tr>
|
||
<td headers="ont-proc">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0005813">located_in centrosome</a>
|
||
</td>
|
||
<td headers="ont-evi-3 ont-evi-code-3">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-1-2', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IEA</a>
|
||
<div id="evidence-code-1-2" class="ecode">Inferred from Electronic Annotation<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi-3 ont-pub-3"> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-proc">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0005737">located_in cytoplasm</a>
|
||
</td>
|
||
<td headers="ont-evi-3 ont-evi-code-3">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-2-2', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IEA</a>
|
||
<div id="evidence-code-2-2" class="ecode">Inferred from Electronic Annotation<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi-3 ont-pub-3"> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-proc">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0005654">located_in nucleoplasm</a>
|
||
</td>
|
||
<td headers="ont-evi-3 ont-evi-code-3">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-3-2', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> TAS</a>
|
||
<div id="evidence-code-3-2" class="ecode">Traceable Author Statement<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi-3 ont-pub-3"> </td>
|
||
</tr>
|
||
</tbody>
|
||
</table>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="rprt-section gene-general-protein-info">
|
||
<section class="rprt-section-header" id="general-protein-info">
|
||
<h2 id="header-general-protein-info">
|
||
<a href="#" class="jig-ncbitoggler-open" data-jigconfig="targets: '.gene-general-protein-info .rprt-section-body'">
|
||
<span class="ui-ncbitoggler-master-text">General protein information</span>
|
||
</a>
|
||
</h2>
|
||
<div class="rprt-section-tools">
|
||
<a href="#top" title="Go to the top of the page" class="gene-top-page">
|
||
<span>Go to the top of the page</span>
|
||
</a>
|
||
<a href="/books/NBK3841/#EntrezGene.General_Protein_Information" title="Help" class="gene-section-help">
|
||
<span>Help</span>
|
||
</a>
|
||
</div>
|
||
</section>
|
||
<div class="rprt-section-body">
|
||
<dl>
|
||
<dt>Preferred Names</dt>
|
||
<dd>microcephalin</dd>
|
||
</dl>
|
||
<dl>
|
||
<dt>Names</dt>
|
||
<dd>BRCT-repeat inhibitor of TERT expression 1</dd>
|
||
</dl>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="rprt-section gene-reference-sequences">
|
||
<section class="rprt-section-header" id="reference-sequences">
|
||
<h2 id="header-reference-sequences">
|
||
<a href="#" class="jig-ncbitoggler-open" data-jigconfig="targets: '.gene-reference-sequences .rprt-section-body'">
|
||
<span class="ui-ncbitoggler-master-text">NCBI Reference Sequences (RefSeq)</span>
|
||
</a>
|
||
</h2>
|
||
<div class="rprt-section-tools">
|
||
<a href="#top" title="Go to the top of the page" class="gene-top-page">
|
||
<span>Go to the top of the page</span>
|
||
</a>
|
||
<a href="/books/NBK3841/#EntrezGene.NCBI_Reference_Sequences_RefS" title="Help" class="gene-section-help">
|
||
<span>Help</span>
|
||
</a>
|
||
</div>
|
||
</section>
|
||
<div class="rprt-section-body">
|
||
<p>
|
||
<span class="new-icon">NEW</span>
|
||
<strong>Try the new <a href="/datasets/tables/genes/?table_type=transcripts&ids=79648&utm_source=gene&utm_medium=referral&utm_campaign=refseq" title="View selected attributes for an input list of genes and download datasets containing genomic, transcript and protein sequences along with a detailed data report." data-ga-category="refseq" data-ga-action="click_datasets_link" data-ga-label="transcript_table">Transcript table</a></strong>
|
||
</p>
|
||
<h3 class="genomerefseqs gene_std_toggler" id="refseqset-independent">
|
||
<a class="jig-ncbitoggler-open">RefSeqs maintained independently of Annotated
|
||
Genomes</a>
|
||
</h3>
|
||
<div class="genomerefseqs_slave">
|
||
<p class="desc"> These reference sequences exist independently of genome builds. <a href="#refseq-expl" id="expl-refseg">Explain</a></p>
|
||
<p id="refseq-expl"> These reference sequences are curated independently of the genome
|
||
annotation cycle, so their versions may not match the RefSeq versions in the current
|
||
genome build. Identify version mismatches by comparing the version of the RefSeq in
|
||
this section to the one reported in <a href="#geneGenomic regions, transcripts, and products">Genomic regions,
|
||
transcripts, and products</a> above. </p>
|
||
<h4 id="genomic-p98272528">Genomic </h4>
|
||
<ol>
|
||
<li>
|
||
<p>NG_016619.3 RefSeqGene</p>
|
||
<dl>
|
||
<dt>Range</dt>
|
||
<dd class="rs-range">
|
||
<span>5002..246883</span>
|
||
</dd>
|
||
<dt>Download</dt>
|
||
<dd><a href="/nuccore/NG_016619.3?from=5002&to=246883&report=genbank" ref="ordinalpos=1&ncbi_uid=79648&link_uid=NG_016619.3?from=5002&to=246883&report=genbank">GenBank</a>, <a href="/nuccore/NG_016619.3?from=5002&to=246883&report=fasta" ref="ordinalpos=1&ncbi_uid=79648&link_uid=NG_016619.3?from=5002&to=246883&report=fasta">FASTA</a>, <a href="/nuccore/NG_016619.3?from=1&to=283164&report=graph&content=5" ref="ordinalpos=1&ncbi_uid=79648&link_uid=NG_016619.3?from=1&to=283164&report=graph&content=5">Sequence Viewer (Graphics)</a></dd>
|
||
</dl>
|
||
</li>
|
||
</ol>
|
||
<h4 id="mrnaandproteins-p62730512">mRNA and Protein(s) </h4>
|
||
<ol>
|
||
<li>
|
||
<p><a href="/nuccore/NM_001172574.2">NM_001172574.2</a> → <a href="/protein/NP_001166045.2">NP_001166045.2</a> microcephalin isoform 2</p>
|
||
<p style="background:#fff; margin-top:1em;">Status: REVIEWED</p>
|
||
<dl>
|
||
<dt>Description</dt>
|
||
<dd>Transcript Variant: This variant (2, also known as MCPH1deltae9-14) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a distinct C-terminus and is shorter than isoform 1.</dd>
|
||
<dt>Source sequence(s)</dt>
|
||
<dd class="wordwrap">
|
||
<a href="/nuccore/AC016065">AC016065</a>
|
||
</dd>
|
||
<dt>Consensus CDS</dt>
|
||
<dd>
|
||
<a href="/CCDS/CcdsBrowse.cgi?REQUEST=CCDS&GO=MainBrowse&DATA=CCDS55190.1">CCDS55190.1</a>
|
||
</dd>
|
||
<dt>UniProtKB/TrEMBL</dt>
|
||
<dd>
|
||
<a href="https://www.uniprot.org/uniprot/A0A8I5KRI7" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">A0A8I5KRI7</a>
|
||
</dd>
|
||
<dt>Related</dt>
|
||
<dd><a href="http://www.ensembl.org/id/ENSP00000430962.1" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">ENSP00000430962.1</a>, <a href="http://www.ensembl.org/id/ENST00000519480.6" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">ENST00000519480.6</a></dd>
|
||
<dt class="clear"> Conserved Domains (2) <a href="/Structure/cdd/wrpsb.cgi?seqinput=NP_001166045.2">summary</a></dt>
|
||
<dd>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=349348">cd17716</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">8</span> → <span class="cddto">86</span></dt>
|
||
<dd class="clearfix"> BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins</dd>
|
||
</dl>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=403469">pfam12258</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">225</span> → <span class="cddto">607</span></dt>
|
||
<dd class="clearfix"> Microcephalin; Microcephalin protein</dd>
|
||
</dl>
|
||
</dd>
|
||
</dl>
|
||
</li>
|
||
<li>
|
||
<p><a href="/nuccore/NM_001172575.2">NM_001172575.2</a> → <a href="/protein/NP_001166046.1">NP_001166046.1</a> microcephalin isoform 3</p>
|
||
<p style="background:#fff; margin-top:1em;">Status: REVIEWED</p>
|
||
<dl>
|
||
<dt>Description</dt>
|
||
<dd>Transcript Variant: This variant (3) lacks an in-frame exon in the 5' coding region, and differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (3) has a distinct C-terminus and is shorter than isoform 1.</dd>
|
||
<dt>Source sequence(s)</dt>
|
||
<dd class="wordwrap">
|
||
<a href="/nuccore/AC016065, AI379664, AK301702, BC030702">AC016065, AI379664, AK301702, BC030702</a>
|
||
</dd>
|
||
<dt>Consensus CDS</dt>
|
||
<dd>
|
||
<a href="/CCDS/CcdsBrowse.cgi?REQUEST=CCDS&GO=MainBrowse&DATA=CCDS55191.1">CCDS55191.1</a>
|
||
</dd>
|
||
<dt>UniProtKB/TrEMBL</dt>
|
||
<dd>
|
||
<a href="https://www.uniprot.org/uniprot/A0A8I5KRI7" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">A0A8I5KRI7</a>
|
||
</dd>
|
||
<dt>Related</dt>
|
||
<dd><a href="http://www.ensembl.org/id/ENSP00000430768.1" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">ENSP00000430768.1</a>, <a href="http://www.ensembl.org/id/ENST00000522905.1" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">ENST00000522905.1</a></dd>
|
||
<dt class="clear"> Conserved Domains (2) <a href="/Structure/cdd/wrpsb.cgi?seqinput=NP_001166046.1">summary</a></dt>
|
||
<dd>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=289062">pfam12258</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">179</span> → <span class="cddto">555</span></dt>
|
||
<dd class="clearfix"> Microcephalin; Microcephalin protein</dd>
|
||
</dl>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=289507">pfam12738</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">9</span> → <span class="cddto">75</span></dt>
|
||
<dd class="clearfix"> PTCB-BRCT; twin BRCT domain</dd>
|
||
</dl>
|
||
</dd>
|
||
</dl>
|
||
</li>
|
||
<li>
|
||
<p><a href="/nuccore/NM_001322042.2">NM_001322042.2</a> → <a href="/protein/NP_001308971.2">NP_001308971.2</a> microcephalin isoform 4</p>
|
||
<p style="background:#fff; margin-top:1em;">Status: REVIEWED</p>
|
||
<dl>
|
||
<dt>Description</dt>
|
||
<dd>Transcript Variant: This variant (4) contains an additional exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (4) has a distinct C-terminus and is longer than isoform 1.</dd>
|
||
<dt>Source sequence(s)</dt>
|
||
<dd class="wordwrap">
|
||
<a href="/nuccore/AC016065, AC018398, AF287957">AC016065, AC018398, AF287957</a>
|
||
</dd>
|
||
<dt>Consensus CDS</dt>
|
||
<dd>
|
||
<a href="/CCDS/CcdsBrowse.cgi?REQUEST=CCDS&GO=MainBrowse&DATA=CCDS94246.1">CCDS94246.1</a>
|
||
</dd>
|
||
<dt>UniProtKB/TrEMBL</dt>
|
||
<dd><a href="https://www.uniprot.org/uniprot/A0A8I5KV10" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">A0A8I5KV10</a>, <a href="https://www.uniprot.org/uniprot/A0A8I5KX36" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">A0A8I5KX36</a></dd>
|
||
<dt>Related</dt>
|
||
<dd><a href="http://www.ensembl.org/id/ENSP00000509554.1" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">ENSP00000509554.1</a>, <a href="http://www.ensembl.org/id/ENST00000689348.1" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">ENST00000689348.1</a></dd>
|
||
<dt class="clear"> Conserved Domains (4) <a href="/Structure/cdd/wrpsb.cgi?seqinput=NP_001308971.2">summary</a></dt>
|
||
<dd>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=349348">cd17716</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">8</span> → <span class="cddto">86</span></dt>
|
||
<dd class="clearfix"> BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins</dd>
|
||
</dl>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=349368">cd17736</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">648</span> → <span class="cddto">723</span></dt>
|
||
<dd class="clearfix"> BRCT_microcephalin_rpt2; second BRCT domain of microcephalin and similar proteins</dd>
|
||
</dl>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=349382">cd17751</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">749</span> → <span class="cddto">824</span></dt>
|
||
<dd class="clearfix"> BRCT_microcephalin_rpt3; third BRCT domain of microcephalin and similar proteins</dd>
|
||
</dl>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=371997">pfam12258</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">227</span> → <span class="cddto">603</span></dt>
|
||
<dd class="clearfix"> Microcephalin; Microcephalin protein</dd>
|
||
</dl>
|
||
</dd>
|
||
</dl>
|
||
</li>
|
||
<li>
|
||
<p><a href="/nuccore/NM_001322043.2">NM_001322043.2</a> → <a href="/protein/NP_001308972.2">NP_001308972.2</a> microcephalin isoform 5</p>
|
||
<p style="background:#fff; margin-top:1em;">Status: REVIEWED</p>
|
||
<dl>
|
||
<dt>Description</dt>
|
||
<dd>Transcript Variant: This variant (5) uses an alternate in-frame splice site in the 5' coding region, and lacks several 3' exons but contains an alternate 3' terminal exon and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (5) has a distinct C-terminus and is shorter than isoform 1.</dd>
|
||
<dt>Source sequence(s)</dt>
|
||
<dd class="wordwrap">
|
||
<a href="/nuccore/AC016065">AC016065</a>
|
||
</dd>
|
||
<dt>Consensus CDS</dt>
|
||
<dd>
|
||
<a href="/CCDS/CcdsBrowse.cgi?REQUEST=CCDS&GO=MainBrowse&DATA=CCDS94250.1">CCDS94250.1</a>
|
||
</dd>
|
||
<dt>UniProtKB/TrEMBL</dt>
|
||
<dd><a href="https://www.uniprot.org/uniprot/A0A8I5KR64" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">A0A8I5KR64</a>, <a href="https://www.uniprot.org/uniprot/A0A8I5KRI7" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">A0A8I5KRI7</a></dd>
|
||
<dt>Related</dt>
|
||
<dd><a href="http://www.ensembl.org/id/ENSP00000510001.1" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">ENSP00000510001.1</a>, <a href="http://www.ensembl.org/id/ENST00000685179.1" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">ENST00000685179.1</a></dd>
|
||
<dt class="clear"> Conserved Domains (2) <a href="/Structure/cdd/wrpsb.cgi?seqinput=NP_001308972.2">summary</a></dt>
|
||
<dd>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=349348">cd17716</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">8</span> → <span class="cddto">84</span></dt>
|
||
<dd class="clearfix"> BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins</dd>
|
||
</dl>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=403469">pfam12258</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">223</span> → <span class="cddto">605</span></dt>
|
||
<dd class="clearfix"> Microcephalin; Microcephalin protein</dd>
|
||
</dl>
|
||
</dd>
|
||
</dl>
|
||
</li>
|
||
<li>
|
||
<p><a href="/nuccore/NM_001322045.2">NM_001322045.2</a> → <a href="/protein/NP_001308974.2">NP_001308974.2</a> microcephalin isoform 6</p>
|
||
<p style="background:#fff; margin-top:1em;">Status: REVIEWED</p>
|
||
<dl>
|
||
<dt>Description</dt>
|
||
<dd>Transcript Variant: This variant (6) contains an alternate 5' terminal exon and it thus differs in the 5' UTR and initiates translation from a downstream in-frame start codon, and it also lacks several 3' exons but contains an alternate 3' terminal exon and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (6) is shorter at the N-terminus and has a distinct and shorter C-terminus, compared to isoform 1.</dd>
|
||
<dt>Source sequence(s)</dt>
|
||
<dd class="wordwrap">
|
||
<a href="/nuccore/AC016065">AC016065</a>
|
||
</dd>
|
||
<dt>UniProtKB/TrEMBL</dt>
|
||
<dd>
|
||
<a href="https://www.uniprot.org/uniprot/A0A8I5KRI7" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">A0A8I5KRI7</a>
|
||
</dd>
|
||
<dt class="clear"> Conserved Domains (2) <a href="/Structure/cdd/wrpsb.cgi?seqinput=NP_001308974.2">summary</a></dt>
|
||
<dd>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=349348">cd17716</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">1</span> → <span class="cddto">52</span></dt>
|
||
<dd class="clearfix"> BRCT_microcephalin_rpt1; first (N-terminal) BRCT domain of microcephalin and similar proteins</dd>
|
||
</dl>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=403469">pfam12258</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">191</span> → <span class="cddto">573</span></dt>
|
||
<dd class="clearfix"> Microcephalin; Microcephalin protein</dd>
|
||
</dl>
|
||
</dd>
|
||
</dl>
|
||
</li>
|
||
<li>
|
||
<p><a href="/nuccore/NM_001363979.1">NM_001363979.1</a> → <a href="/protein/NP_001350908.1">NP_001350908.1</a> microcephalin isoform 7</p>
|
||
<p style="background:#fff; margin-top:1em;">Status: REVIEWED</p>
|
||
<dl>
|
||
<dt>Source sequence(s)</dt>
|
||
<dd class="wordwrap">
|
||
<a href="/nuccore/AC016065, AC018398, AF287957">AC016065, AC018398, AF287957</a>
|
||
</dd>
|
||
<dt>Consensus CDS</dt>
|
||
<dd>
|
||
<a href="/CCDS/CcdsBrowse.cgi?REQUEST=CCDS&GO=MainBrowse&DATA=CCDS94248.1">CCDS94248.1</a>
|
||
</dd>
|
||
<dt>UniProtKB/TrEMBL</dt>
|
||
<dd><a href="https://www.uniprot.org/uniprot/A0A8I5KW78" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">A0A8I5KW78</a>, <a href="https://www.uniprot.org/uniprot/A0A8I5KX36" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">A0A8I5KX36</a></dd>
|
||
<dt>Related</dt>
|
||
<dd><a href="http://www.ensembl.org/id/ENSP00000510536.1" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">ENSP00000510536.1</a>, <a href="http://www.ensembl.org/id/ENST00000690826.1" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">ENST00000690826.1</a></dd>
|
||
<dt class="clear"> Conserved Domains (3) <a href="/Structure/cdd/wrpsb.cgi?seqinput=NP_001350908.1">summary</a></dt>
|
||
<dd>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=237994">cd00027</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">669</span> → <span class="cddto">714</span></dt>
|
||
<dd class="clearfix"> BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...</dd>
|
||
</dl>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=315029">pfam12258</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">227</span> → <span class="cddto">603</span></dt>
|
||
<dd class="clearfix"> Microcephalin; Microcephalin protein</dd>
|
||
</dl>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=315420">pfam12738</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">9</span> → <span class="cddto">75</span></dt>
|
||
<dd class="clearfix"> PTCB-BRCT; twin BRCT domain</dd>
|
||
</dl>
|
||
</dd>
|
||
</dl>
|
||
</li>
|
||
<li>
|
||
<p><a href="/nuccore/NM_001363980.2">NM_001363980.2</a> → <a href="/protein/NP_001350909.1">NP_001350909.1</a> microcephalin isoform 8</p>
|
||
<p style="background:#fff; margin-top:1em;">Status: REVIEWED</p>
|
||
<dl>
|
||
<dt>Source sequence(s)</dt>
|
||
<dd class="wordwrap">
|
||
<a href="/nuccore/AC016065, AF287957">AC016065, AF287957</a>
|
||
</dd>
|
||
<dt>Consensus CDS</dt>
|
||
<dd>
|
||
<a href="/CCDS/CcdsBrowse.cgi?REQUEST=CCDS&GO=MainBrowse&DATA=CCDS94249.1">CCDS94249.1</a>
|
||
</dd>
|
||
<dt>UniProtKB/TrEMBL</dt>
|
||
<dd><a href="https://www.uniprot.org/uniprot/A0A8I5KR97" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">A0A8I5KR97</a>, <a href="https://www.uniprot.org/uniprot/A0A8I5QKY7" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">A0A8I5QKY7</a></dd>
|
||
<dt>Related</dt>
|
||
<dd><a href="http://www.ensembl.org/id/ENSP00000509054.1" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">ENSP00000509054.1</a>, <a href="http://www.ensembl.org/id/ENST00000689633.1" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">ENST00000689633.1</a></dd>
|
||
<dt class="clear"> Conserved Domains (3) <a href="/Structure/cdd/wrpsb.cgi?seqinput=NP_001350909.1">summary</a></dt>
|
||
<dd>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=315029">pfam12258</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">227</span> → <span class="cddto">603</span></dt>
|
||
<dd class="clearfix"> Microcephalin; Microcephalin protein</dd>
|
||
</dl>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=315420">pfam12738</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">9</span> → <span class="cddto">75</span></dt>
|
||
<dd class="clearfix"> PTCB-BRCT; twin BRCT domain</dd>
|
||
</dl>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=320726">cl00038</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">670</span> → <span class="cddto">739</span></dt>
|
||
<dd class="clearfix"> BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...</dd>
|
||
</dl>
|
||
</dd>
|
||
</dl>
|
||
</li>
|
||
<li>
|
||
<p><a href="/nuccore/NM_001410916.1">NM_001410916.1</a> → <a href="/protein/NP_001397845.1">NP_001397845.1</a> microcephalin isoform 9</p>
|
||
<p style="background:#fff; margin-top:1em;">Status: REVIEWED</p>
|
||
<dl>
|
||
<dt>Source sequence(s)</dt>
|
||
<dd class="wordwrap">
|
||
<a href="/nuccore/AC016065, AC018398">AC016065, AC018398</a>
|
||
</dd>
|
||
<dt>Consensus CDS</dt>
|
||
<dd>
|
||
<a href="/CCDS/CcdsBrowse.cgi?REQUEST=CCDS&GO=MainBrowse&DATA=CCDS94245.1">CCDS94245.1</a>
|
||
</dd>
|
||
<dt>UniProtKB/TrEMBL</dt>
|
||
<dd><a href="https://www.uniprot.org/uniprot/A0A8I5KZ89" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">A0A8I5KZ89</a>, <a href="https://www.uniprot.org/uniprot/A0A8I5QKY7" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">A0A8I5QKY7</a></dd>
|
||
<dt>Related</dt>
|
||
<dd><a href="http://www.ensembl.org/id/ENSP00000510652.1" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">ENSP00000510652.1</a>, <a href="http://www.ensembl.org/id/ENST00000691435.1" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">ENST00000691435.1</a></dd>
|
||
</dl>
|
||
</li>
|
||
<li>
|
||
<p><a href="/nuccore/NM_001410917.1">NM_001410917.1</a> → <a href="/protein/NP_001397846.1">NP_001397846.1</a> microcephalin isoform 10</p>
|
||
<p style="background:#fff; margin-top:1em;">Status: REVIEWED</p>
|
||
<dl>
|
||
<dt>Source sequence(s)</dt>
|
||
<dd class="wordwrap">
|
||
<a href="/nuccore/AC016065, AC018398, AF287957">AC016065, AC018398, AF287957</a>
|
||
</dd>
|
||
<dt>Consensus CDS</dt>
|
||
<dd>
|
||
<a href="/CCDS/CcdsBrowse.cgi?REQUEST=CCDS&GO=MainBrowse&DATA=CCDS94247.1">CCDS94247.1</a>
|
||
</dd>
|
||
<dt>UniProtKB/TrEMBL</dt>
|
||
<dd><a href="https://www.uniprot.org/uniprot/A0A8I5KPV6" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">A0A8I5KPV6</a>, <a href="https://www.uniprot.org/uniprot/A0A8I5KX36" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">A0A8I5KX36</a></dd>
|
||
<dt>Related</dt>
|
||
<dd><a href="http://www.ensembl.org/id/ENSP00000509072.1" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">ENSP00000509072.1</a>, <a href="http://www.ensembl.org/id/ENST00000692938.1" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">ENST00000692938.1</a></dd>
|
||
</dl>
|
||
</li>
|
||
<li>
|
||
<p><a href="/nuccore/NM_024596.5">NM_024596.5</a> → <a href="/protein/NP_078872.3">NP_078872.3</a> microcephalin isoform 1</p>
|
||
<p style="background:#fff; margin-top:1em;">Status: REVIEWED</p>
|
||
<dl>
|
||
<dt>Description</dt>
|
||
<dd>Transcript Variant: This variant (1, also known as MCPH1-FL) encodes isoform 1.</dd>
|
||
<dt>Source sequence(s)</dt>
|
||
<dd class="wordwrap">
|
||
<a href="/nuccore/AC016065, AC018398, AF287957">AC016065, AC018398, AF287957</a>
|
||
</dd>
|
||
<dt>Consensus CDS</dt>
|
||
<dd>
|
||
<a href="/CCDS/CcdsBrowse.cgi?REQUEST=CCDS&GO=MainBrowse&DATA=CCDS43689.1">CCDS43689.1</a>
|
||
</dd>
|
||
<dt>UniProtKB/Swiss-Prot</dt>
|
||
<dd><a href="https://www.uniprot.org/uniprot/A0A075B6F8" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">A0A075B6F8</a>, <a href="https://www.uniprot.org/uniprot/B4DWW2" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">B4DWW2</a>, <a href="https://www.uniprot.org/uniprot/E9PGU5" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">E9PGU5</a>, <a href="https://www.uniprot.org/uniprot/E9PH63" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">E9PH63</a>, <a href="https://www.uniprot.org/uniprot/Q66GU1" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">Q66GU1</a>, <a href="https://www.uniprot.org/uniprot/Q8NEM0" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">Q8NEM0</a>, <a href="https://www.uniprot.org/uniprot/Q9H9C7" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">Q9H9C7</a></dd>
|
||
<dt>UniProtKB/TrEMBL</dt>
|
||
<dd>
|
||
<a href="https://www.uniprot.org/uniprot/A0A8I5KX36" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">A0A8I5KX36</a>
|
||
</dd>
|
||
<dt>Related</dt>
|
||
<dd><a href="http://www.ensembl.org/id/ENSP00000342924.5" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">ENSP00000342924.5</a>, <a href="http://www.ensembl.org/id/ENST00000344683.10" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">ENST00000344683.10</a></dd>
|
||
<dt class="clear"> Conserved Domains (4) <a href="/Structure/cdd/wrpsb.cgi?seqinput=NP_078872.3">summary</a></dt>
|
||
<dd>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=237994">cd00027</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">669</span> → <span class="cddto">714</span></dt>
|
||
<dd class="clearfix"> BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...</dd>
|
||
</dl>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=315029">pfam12258</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">227</span> → <span class="cddto">603</span></dt>
|
||
<dd class="clearfix"> Microcephalin; Microcephalin protein</dd>
|
||
</dl>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=315420">pfam12738</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">9</span> → <span class="cddto">75</span></dt>
|
||
<dd class="clearfix"> PTCB-BRCT; twin BRCT domain</dd>
|
||
</dl>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=320726">cl00038</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">763</span> → <span class="cddto">832</span></dt>
|
||
<dd class="clearfix"> BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...</dd>
|
||
</dl>
|
||
</dd>
|
||
</dl>
|
||
</li>
|
||
</ol>
|
||
<h4 id="rna-p107233408">RNA</h4>
|
||
<ol>
|
||
<li>
|
||
<p><a href="/nuccore/NR_136159.2">NR_136159.2</a> RNA Sequence </p>
|
||
<p style="background:#fff; margin-top:1em;">Status: REVIEWED</p>
|
||
<dl>
|
||
<dt>Description</dt>
|
||
<dd>Transcript Variant: This variant (7) lacks an internal exon and several 3' exons, but contains an alternate 3' terminal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).</dd>
|
||
<dt>Source sequence(s)</dt>
|
||
<dd class="wordwrap">
|
||
<a href="/nuccore/AC016065">AC016065</a>
|
||
</dd>
|
||
</dl>
|
||
</li>
|
||
</ol>
|
||
</div>
|
||
<h3 class="genomerefseqs gene_std_toggler" id="annotatedrefseq-title">
|
||
<a class="jig-ncbitoggler-open">RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08</a>
|
||
</h3>
|
||
<div class="genomerefseqs_slave">
|
||
<p class="desc"> The following sections contain reference sequences that belong to a
|
||
specific genome build. <a href="#" id="expl-genomes">Explain</a></p>
|
||
<p id="expl-genomes-desc" style="display:none">This section includes genomic Reference
|
||
Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as
|
||
RefSeqs for chromosomes and scaffolds (contigs) from both reference and alternate
|
||
assemblies. Model RNAs and proteins are also reported here.</p>
|
||
<h3 id="refseq-sequencedescription-p137710016">Reference GRCh38.p14 Primary Assembly</h3>
|
||
<h4 id="genomic-p137710016">Genomic </h4>
|
||
<ol>
|
||
<li>
|
||
<p>NC_000008.11 Reference GRCh38.p14 Primary Assembly</p>
|
||
<dl>
|
||
<dt>Range</dt>
|
||
<dd class="rs-range">
|
||
<span>6406627..6648508</span>
|
||
</dd>
|
||
<dt>Download</dt>
|
||
<dd><a href="/nuccore/NC_000008.11?from=6406627&to=6648508&report=genbank" ref="ordinalpos=1&ncbi_uid=79648&link_uid=NC_000008.11?from=6406627&to=6648508&report=genbank">GenBank</a>, <a href="/nuccore/NC_000008.11?from=6406627&to=6648508&report=fasta" ref="ordinalpos=1&ncbi_uid=79648&link_uid=NC_000008.11?from=6406627&to=6648508&report=fasta">FASTA</a>, <a href="/nuccore/NC_000008.11?from=6370344&to=6684789&report=graph&content=5" ref="ordinalpos=1&ncbi_uid=79648&link_uid=NC_000008.11?from=6370344&to=6684789&report=graph&content=5">Sequence Viewer (Graphics)</a></dd>
|
||
</dl>
|
||
</li>
|
||
</ol>
|
||
<h4 id="mrnaandproteins-p70705200">mRNA and Protein(s) </h4>
|
||
<ol>
|
||
<li>
|
||
<p><a href="/nuccore/XM_017013833.3">XM_017013833.3</a> → <a href="/protein/XP_016869322.1">XP_016869322.1</a> microcephalin isoform X7</p>
|
||
<dl>
|
||
<dt>UniProtKB/TrEMBL</dt>
|
||
<dd>
|
||
<a href="https://www.uniprot.org/uniprot/A0A8I5QKY7" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">A0A8I5QKY7</a>
|
||
</dd>
|
||
</dl>
|
||
</li>
|
||
<li>
|
||
<p><a href="/nuccore/XM_047422234.1">XM_047422234.1</a> → <a href="/protein/XP_047278190.1">XP_047278190.1</a> microcephalin isoform X5</p>
|
||
<dl>
|
||
<dt>UniProtKB/TrEMBL</dt>
|
||
<dd>
|
||
<a href="https://www.uniprot.org/uniprot/A0A8I5KX36" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">A0A8I5KX36</a>
|
||
</dd>
|
||
</dl>
|
||
</li>
|
||
<li>
|
||
<p><a href="/nuccore/XM_047422233.1">XM_047422233.1</a> → <a href="/protein/XP_047278189.1">XP_047278189.1</a> microcephalin isoform X2</p>
|
||
<dl>
|
||
<dt>UniProtKB/TrEMBL</dt>
|
||
<dd>
|
||
<a href="https://www.uniprot.org/uniprot/A0A8I5KX36" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">A0A8I5KX36</a>
|
||
</dd>
|
||
<dt>Related</dt>
|
||
<dd><a href="http://www.ensembl.org/id/ENSP00000510092.1" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">ENSP00000510092.1</a>, <a href="http://www.ensembl.org/id/ENST00000688388.1" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">ENST00000688388.1</a></dd>
|
||
</dl>
|
||
</li>
|
||
<li>
|
||
<p><a href="/nuccore/XM_017013829.3">XM_017013829.3</a> → <a href="/protein/XP_016869318.1">XP_016869318.1</a> microcephalin isoform X1</p>
|
||
<dl>
|
||
<dt>UniProtKB/TrEMBL</dt>
|
||
<dd>
|
||
<a href="https://www.uniprot.org/uniprot/A0A8I5KX36" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">A0A8I5KX36</a>
|
||
</dd>
|
||
</dl>
|
||
</li>
|
||
<li>
|
||
<p><a href="/nuccore/XM_017013832.3">XM_017013832.3</a> → <a href="/protein/XP_016869321.1">XP_016869321.1</a> microcephalin isoform X3</p>
|
||
<dl>
|
||
<dt>UniProtKB/TrEMBL</dt>
|
||
<dd>
|
||
<a href="https://www.uniprot.org/uniprot/A0A8I5QKY7" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">A0A8I5QKY7</a>
|
||
</dd>
|
||
</dl>
|
||
</li>
|
||
<li>
|
||
<p><a href="/nuccore/XM_011534757.4">XM_011534757.4</a> → <a href="/protein/XP_011533059.1">XP_011533059.1</a> microcephalin isoform X6</p>
|
||
<dl>
|
||
<dt>UniProtKB/TrEMBL</dt>
|
||
<dd>
|
||
<a href="https://www.uniprot.org/uniprot/A0A8I5QKY7" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">A0A8I5QKY7</a>
|
||
</dd>
|
||
<dt class="clear"> Conserved Domains (3) <a href="/Structure/cdd/wrpsb.cgi?seqinput=XP_011533059.1">summary</a></dt>
|
||
<dd>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=237994">cd00027</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">669</span> → <span class="cddto">714</span></dt>
|
||
<dd class="clearfix"> BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...</dd>
|
||
</dl>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=289062">pfam12258</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">227</span> → <span class="cddto">603</span></dt>
|
||
<dd class="clearfix"> Microcephalin; Microcephalin protein</dd>
|
||
</dl>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=289507">pfam12738</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">9</span> → <span class="cddto">75</span></dt>
|
||
<dd class="clearfix"> PTCB-BRCT; twin BRCT domain</dd>
|
||
</dl>
|
||
</dd>
|
||
</dl>
|
||
</li>
|
||
<li>
|
||
<p><a href="/nuccore/XM_011534756.4">XM_011534756.4</a> → <a href="/protein/XP_011533058.1">XP_011533058.1</a> microcephalin isoform X4</p>
|
||
<dl>
|
||
<dt>UniProtKB/TrEMBL</dt>
|
||
<dd>
|
||
<a href="https://www.uniprot.org/uniprot/A0A8I5QKY7" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">A0A8I5QKY7</a>
|
||
</dd>
|
||
<dt>Related</dt>
|
||
<dd>
|
||
<a href="http://www.ensembl.org/id/ENST00000688912.1" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">ENST00000688912.1</a>
|
||
</dd>
|
||
<dt class="clear"> Conserved Domains (3) <a href="/Structure/cdd/wrpsb.cgi?seqinput=XP_011533058.1">summary</a></dt>
|
||
<dd>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=237994">cd00027</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">669</span> → <span class="cddto">714</span></dt>
|
||
<dd class="clearfix"> BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...</dd>
|
||
</dl>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=289062">pfam12258</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">227</span> → <span class="cddto">603</span></dt>
|
||
<dd class="clearfix"> Microcephalin; Microcephalin protein</dd>
|
||
</dl>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=289507">pfam12738</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">9</span> → <span class="cddto">75</span></dt>
|
||
<dd class="clearfix"> PTCB-BRCT; twin BRCT domain</dd>
|
||
</dl>
|
||
</dd>
|
||
</dl>
|
||
</li>
|
||
<li>
|
||
<p><a href="/nuccore/XM_011534758.4">XM_011534758.4</a> → <a href="/protein/XP_011533060.1">XP_011533060.1</a> microcephalin isoform X8</p>
|
||
<dl>
|
||
<dt>UniProtKB/TrEMBL</dt>
|
||
<dd>
|
||
<a href="https://www.uniprot.org/uniprot/A0A8I5QKY7" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">A0A8I5QKY7</a>
|
||
</dd>
|
||
<dt class="clear"> Conserved Domains (3) <a href="/Structure/cdd/wrpsb.cgi?seqinput=XP_011533060.1">summary</a></dt>
|
||
<dd>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=237994">cd00027</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">669</span> → <span class="cddto">714</span></dt>
|
||
<dd class="clearfix"> BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...</dd>
|
||
</dl>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=289062">pfam12258</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">227</span> → <span class="cddto">603</span></dt>
|
||
<dd class="clearfix"> Microcephalin; Microcephalin protein</dd>
|
||
</dl>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=289507">pfam12738</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">9</span> → <span class="cddto">75</span></dt>
|
||
<dd class="clearfix"> PTCB-BRCT; twin BRCT domain</dd>
|
||
</dl>
|
||
</dd>
|
||
</dl>
|
||
</li>
|
||
</ol>
|
||
<h3 id="refseq-sequencedescription-p28951728">Reference GRCh38.p14 PATCHES</h3>
|
||
<h4 id="genomic-p28951728">Genomic </h4>
|
||
<ol>
|
||
<li>
|
||
<p>NW_018654717.1 Reference GRCh38.p14 PATCHES</p>
|
||
<dl>
|
||
<dt>Range</dt>
|
||
<dd class="rs-range">
|
||
<span>8385..43778</span>
|
||
</dd>
|
||
<dt>Download</dt>
|
||
<dd><a href="/nuccore/NW_018654717.1?from=8385&to=43778&report=genbank" ref="ordinalpos=1&ncbi_uid=79648&link_uid=NW_018654717.1?from=8385&to=43778&report=genbank">GenBank</a>, <a href="/nuccore/NW_018654717.1?from=8385&to=43778&report=fasta" ref="ordinalpos=1&ncbi_uid=79648&link_uid=NW_018654717.1?from=8385&to=43778&report=fasta">FASTA</a>, <a href="/nuccore/NW_018654717.1?from=3075&to=49086&report=graph&content=5" ref="ordinalpos=1&ncbi_uid=79648&link_uid=NW_018654717.1?from=3075&to=49086&report=graph&content=5">Sequence Viewer (Graphics)</a></dd>
|
||
</dl>
|
||
</li>
|
||
</ol>
|
||
<h3 id="refseq-sequencedescription-p66483488">Reference GRCh38.p14 PATCHES</h3>
|
||
<h4 id="genomic-p66483488">Genomic </h4>
|
||
<ol>
|
||
<li>
|
||
<p>NW_025791785.1 Reference GRCh38.p14 PATCHES</p>
|
||
<dl>
|
||
<dt>Range</dt>
|
||
<dd class="rs-range">
|
||
<span>342105..416356</span>
|
||
</dd>
|
||
<dt>Download</dt>
|
||
<dd><a href="/nuccore/NW_025791785.1?from=342105&to=416356&report=genbank" ref="ordinalpos=1&ncbi_uid=79648&link_uid=NW_025791785.1?from=342105&to=416356&report=genbank">GenBank</a>, <a href="/nuccore/NW_025791785.1?from=342105&to=416356&report=fasta" ref="ordinalpos=1&ncbi_uid=79648&link_uid=NW_025791785.1?from=342105&to=416356&report=fasta">FASTA</a>, <a href="/nuccore/NW_025791785.1?from=330966&to=427493&report=graph&content=5" ref="ordinalpos=1&ncbi_uid=79648&link_uid=NW_025791785.1?from=330966&to=427493&report=graph&content=5">Sequence Viewer (Graphics)</a></dd>
|
||
</dl>
|
||
</li>
|
||
</ol>
|
||
<h3 id="refseq-sequencedescription-p76049488">Alternate T2T-CHM13v2.0</h3>
|
||
<h4 id="genomic-p76049488">Genomic </h4>
|
||
<ol>
|
||
<li>
|
||
<p>NC_060932.1 Alternate T2T-CHM13v2.0</p>
|
||
<dl>
|
||
<dt>Range</dt>
|
||
<dd class="rs-range">
|
||
<span>6161207..6402976</span>
|
||
</dd>
|
||
<dt>Download</dt>
|
||
<dd><a href="/nuccore/NC_060932.1?from=6161207&to=6402976&report=genbank" ref="ordinalpos=1&ncbi_uid=79648&link_uid=NC_060932.1?from=6161207&to=6402976&report=genbank">GenBank</a>, <a href="/nuccore/NC_060932.1?from=6161207&to=6402976&report=fasta" ref="ordinalpos=1&ncbi_uid=79648&link_uid=NC_060932.1?from=6161207&to=6402976&report=fasta">FASTA</a>, <a href="/nuccore/NC_060932.1?from=6124941&to=6439240&report=graph&content=5" ref="ordinalpos=1&ncbi_uid=79648&link_uid=NC_060932.1?from=6124941&to=6439240&report=graph&content=5">Sequence Viewer (Graphics)</a></dd>
|
||
</dl>
|
||
</li>
|
||
</ol>
|
||
<h4 id="mrnaandproteins-p80990352">mRNA and Protein(s) </h4>
|
||
<ol>
|
||
<li>
|
||
<p><a href="/nuccore/XM_054361230.1">XM_054361230.1</a> → <a href="/protein/XP_054217205.1">XP_054217205.1</a> microcephalin isoform X7</p>
|
||
<dl>
|
||
<dt>UniProtKB/TrEMBL</dt>
|
||
<dd>
|
||
<a href="https://www.uniprot.org/uniprot/A0A1B2M4G2" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">A0A1B2M4G2</a>
|
||
</dd>
|
||
</dl>
|
||
</li>
|
||
<li>
|
||
<p><a href="/nuccore/XM_054361228.1">XM_054361228.1</a> → <a href="/protein/XP_054217203.1">XP_054217203.1</a> microcephalin isoform X5</p>
|
||
<dl>
|
||
<dt>UniProtKB/TrEMBL</dt>
|
||
<dd>
|
||
<a href="https://www.uniprot.org/uniprot/A0A8I5KX36" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">A0A8I5KX36</a>
|
||
</dd>
|
||
</dl>
|
||
</li>
|
||
<li>
|
||
<p><a href="/nuccore/XM_054361225.1">XM_054361225.1</a> → <a href="/protein/XP_054217200.1">XP_054217200.1</a> microcephalin isoform X2</p>
|
||
<dl>
|
||
<dt>UniProtKB/TrEMBL</dt>
|
||
<dd>
|
||
<a href="https://www.uniprot.org/uniprot/A0A8I5KX36" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">A0A8I5KX36</a>
|
||
</dd>
|
||
</dl>
|
||
</li>
|
||
<li>
|
||
<p><a href="/nuccore/XM_054361224.1">XM_054361224.1</a> → <a href="/protein/XP_054217199.1">XP_054217199.1</a> microcephalin isoform X1</p>
|
||
<dl>
|
||
<dt>UniProtKB/TrEMBL</dt>
|
||
<dd>
|
||
<a href="https://www.uniprot.org/uniprot/A0A8I5KX36" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">A0A8I5KX36</a>
|
||
</dd>
|
||
</dl>
|
||
</li>
|
||
<li>
|
||
<p><a href="/nuccore/XM_054361226.1">XM_054361226.1</a> → <a href="/protein/XP_054217201.1">XP_054217201.1</a> microcephalin isoform X3</p>
|
||
<dl>
|
||
<dt>UniProtKB/TrEMBL</dt>
|
||
<dd>
|
||
<a href="https://www.uniprot.org/uniprot/A0A1B2M4G2" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">A0A1B2M4G2</a>
|
||
</dd>
|
||
</dl>
|
||
</li>
|
||
<li>
|
||
<p><a href="/nuccore/XM_054361227.1">XM_054361227.1</a> → <a href="/protein/XP_054217202.1">XP_054217202.1</a> microcephalin isoform X4</p>
|
||
<dl>
|
||
<dt>UniProtKB/TrEMBL</dt>
|
||
<dd>
|
||
<a href="https://www.uniprot.org/uniprot/A0A1B2M4G2" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">A0A1B2M4G2</a>
|
||
</dd>
|
||
</dl>
|
||
</li>
|
||
<li>
|
||
<p><a href="/nuccore/XM_054361229.1">XM_054361229.1</a> → <a href="/protein/XP_054217204.1">XP_054217204.1</a> microcephalin isoform X6</p>
|
||
<dl>
|
||
<dt>UniProtKB/TrEMBL</dt>
|
||
<dd>
|
||
<a href="https://www.uniprot.org/uniprot/A0A1B2M4G2" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">A0A1B2M4G2</a>
|
||
</dd>
|
||
</dl>
|
||
</li>
|
||
<li>
|
||
<p><a href="/nuccore/XM_054361231.1">XM_054361231.1</a> → <a href="/protein/XP_054217206.1">XP_054217206.1</a> microcephalin isoform X8</p>
|
||
<dl>
|
||
<dt>UniProtKB/TrEMBL</dt>
|
||
<dd>
|
||
<a href="https://www.uniprot.org/uniprot/A0A1B2M4G2" ref="itool=Gene_FullReport&PrId=5380&uid=79648&nlmid=&db=gene">A0A1B2M4G2</a>
|
||
</dd>
|
||
</dl>
|
||
</li>
|
||
</ol>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="rprt-section gene-related-sequences">
|
||
<section class="rprt-section-header" id="related-sequences">
|
||
<h2 id="header-related-sequences">
|
||
<a href="#" class="jig-ncbitoggler-open" data-jigconfig="targets: '.gene-related-sequences .rprt-section-body'">
|
||
<span class="ui-ncbitoggler-master-text">Related sequences</span>
|
||
</a>
|
||
</h2>
|
||
<div class="rprt-section-tools">
|
||
<a href="#top" title="Go to the top of the page" class="gene-top-page">
|
||
<span>Go to the top of the page</span>
|
||
</a>
|
||
<a href="/books/NBK3841/#EntrezGene.Related_Sequences" title="Help" class="gene-section-help">
|
||
<span>Help</span>
|
||
</a>
|
||
</div>
|
||
</section>
|
||
<div class="rprt-section-body">
|
||
<div>
|
||
<table id="proteinTblId" class="jig-ncbiservergrid" data-jigconfig="webservice:'/gene/79648/data/related-sequences/',webserviceParams: 'p$l=Ajax', isServersideLoad:true, isServersidePaging: true,isServersidePagingCached: true,pageSize:25">
|
||
<thead>
|
||
<tr>
|
||
<th colspan="2" id="rs-nucleo">Nucleotide</th>
|
||
<th rowspan="2" id="rs-protein">Protein</th>
|
||
</tr>
|
||
<tr>
|
||
<th id="rs-heading">Heading</th>
|
||
<th id="rs-heading-acc">Accession and Version</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody></tbody>
|
||
</table>
|
||
<table id="proteinTblId" class="jig-ncbigrid" data-jigconfig="isPageable:true, pageSize:25">
|
||
<thead>
|
||
<tr>
|
||
<th class="proteinTblTh" rowspan="2" id="rs-prot-acc">Protein Accession</th>
|
||
<th class="proteinTblTh" colspan="2" id="rs-link">Links</th>
|
||
</tr>
|
||
<tr>
|
||
<th id="rs-genepept">GenPept Link</th>
|
||
<th id="rs-uniprot">UniProtKB Link</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
<tr>
|
||
<td headers="rs-prot-acc">Q8NEM0.4</td>
|
||
<td headers="rs-link rs-genepept">
|
||
<a href="/protein/1191186545" ref="ordinalpos=1&ncbi_uid=79648&link_uid=1191186545">GenPept</a>
|
||
</td>
|
||
<td>
|
||
<a href="https://www.uniprot.org/uniprot/Q8NEM0">UniProtKB/Swiss-Prot:Q8NEM0</a>
|
||
</td>
|
||
</tr>
|
||
</tbody>
|
||
</table>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="rprt-section gene-additional-links">
|
||
|
||
<section class="rprt-section-header" id="additional-links"><h2 id="header-additional-links"><a href="#" class="jig-ncbitoggler-open" data-jigconfig="targets: '.gene-additional-links .rprt-section-body'"><span class="ui-ncbitoggler-master-text">Additional links</span></a></h2><div class="rprt-section-tools"><a href="#top" title="Go to the top of the page" class="gene-top-page"><span>Go to the top of the page</span></a><a href="/books/NBK3841/#EntrezGene.Additional_Links" title="Help" class="gene-section-help"><span>Help</span></a></div></section>
|
||
|
||
<div class="rprt-section-body" style="">
|
||
<div id="lsdb"><h3 class="withnote" id="locusspecificdatabases"><a class="jig-ncbitoggler-open">Locus-specific Databases</a></h3><div><ul class="locusdb"><li><a href="https://www.lovd.nl/MCPH1" ref="from_uid=79648" class="lsdblink">MCPH1 @ LOVD</a></li></ul></div></div>
|
||
|
||
<h3 class="withnote" id="genelinkout">
|
||
<a class="jig-ncbitoggler">Gene LinkOut</a>
|
||
</h3><div>
|
||
<p>The following <a href="https://www.ncbi.nlm.nih.gov/projects/linkout/index.html">LinkOut</a> resources are supplied by external providers. These providers are responsible for maintaining the links. </p>
|
||
<div>
|
||
<div class="linkout">
|
||
<a class="jig-ncbitoggler-open main">
|
||
<span>Chemical Information</span>
|
||
</a>
|
||
<ul>
|
||
<li><span class="free-rsc"></span>Interologous Interaction Database</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="http://ophid.utoronto.ca/redirect/ncbi/human?proteins=79648" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=7911">
|
||
<span>Interologous Interaction Database</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="order-rsc"></span>MilliporeSigma</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="https://www.sigmaaldrich.com/catalog/genes/MCPH1?lang=en&region=US" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=9978">
|
||
<span>MCPH1 products</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
</ul>
|
||
</div>
|
||
<div class="linkout">
|
||
<a class="jig-ncbitoggler-open main">
|
||
<span>Molecular Biology Databases</span>
|
||
</a>
|
||
<ul>
|
||
<li><span class="free-rsc"></span>Bgee database</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="https://www.bgee.org/gene/ENSG00000147316" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=10418">
|
||
<span>MCPH1 gene expression</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="free-rsc"></span>BioGPS</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="http://biogps.org/gene/79648/" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=5059">
|
||
<span>BioGPS</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="free-rsc"></span>BioGRID Open Repository of CRISPR Screens (ORCS)</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="https://orcs.thebiogrid.org/Gene/79648" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=10164">
|
||
<span>BioGRID CRISPR Screen Phenotypes (193 hits/1360 screens)</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="free-rsc"></span>CTD: Comparative Toxicogenomics Database</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="http://ctdbase.org/detail.go?type=gene&acc=79648" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=7845">
|
||
<span>CTD: Comparative Toxicogenomics Database - MCPH1</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="free-rsc"></span>Domain Mapping of Disease Mutations</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="http://bioinf.umbc.edu/DMDM/gene_prot_page.php?id=79648" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=7642">
|
||
<span>MCPH1</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="free-rsc"></span>Eukaryotic Promoter Database</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="http://epd.vital-it.ch/cgi-bin/get_doc?db=hgEpdNew&format=genome&entry=MCPH1_1" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=9624">
|
||
<span>MCPH1_1</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="free-rsc"></span>GlyGen glycoinformatics resource</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="https://glygen.org/protein/Q8NEM0" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=10227">
|
||
<span>GlyGen glycoinformatics resource</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="free-rsc"></span><span class="regis-rsc"></span>Human Gene Mutation Database</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=MCPH1" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=3100">
|
||
<span>Human Gene Mutation Database</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="free-rsc"></span>Human eFP Browser</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="http://bar.utoronto.ca/efp_human/cgi-bin/efpWeb.cgi?dataSource=Reproductive&modeInput=Absolute&primaryGene=79648" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=8875">
|
||
<span>Human eFP Browser</span>
|
||
</a>
|
||
</li>
|
||
<li>
|
||
<a target="_blank" href="http://bar.utoronto.ca/efp_human/cgi-bin/efpWeb.cgi?dataSource=Skeletal_Immune_Digestive&modeInput=Absolute&primaryGene=79648" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=8875">
|
||
<span>Human eFP Browser</span>
|
||
</a>
|
||
</li>
|
||
<li>
|
||
<a target="_blank" href="http://bar.utoronto.ca/efp_human/cgi-bin/efpWeb.cgi?dataSource=Nervous&modeInput=Absolute&primaryGene=79648" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=8875">
|
||
<span>Human eFP Browser</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li>Ingenuity Pathways Analysis</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="http://partnersolution.ingenuity.com/?cid=97ae3f91eab87a&p1=Entrez&p2=GV&s=&ipaUri=%2Fpa%2Fapi%2Fv2%2Fgeneview%3Fapplicationname%3DEntrez%26geneId%3D79648%26geneidtype%3Dentrezgene" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=5628">
|
||
<span>Ingenuity Pathways Analysis</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="free-rsc"></span>InnateDB</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="http://www.innatedb.com/getGeneCard.do?id=5695" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=7894">
|
||
<span>InnateDB</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="free-rsc"></span>InterMine</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="https://www.humanmine.org/humanmine/search?keyword=ENSG00000147316" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=9169">
|
||
<span>InterMine</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="free-rsc"></span>Kyoto Encyclopedia of Genes and Genomes</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="http://www.genome.jp/dbget-bin/www_bget?hsa:79648" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=5174">
|
||
<span>Kyoto Encyclopedia of Genes and Genomes</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="free-rsc"></span>OMA Browser: Orthologous MAtrix</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="https://omabrowser.org/oma/info/HUMAN92357/" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=9822">
|
||
<span>OMA Browser: Orthologous MAtrix</span>
|
||
</a>
|
||
</li>
|
||
<li>
|
||
<a target="_blank" href="https://omabrowser.org/oma/info/HUMAN92358/" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=9822">
|
||
<span>OMA Browser: Orthologous MAtrix</span>
|
||
</a>
|
||
</li>
|
||
<li>
|
||
<a target="_blank" href="https://omabrowser.org/oma/info/HUMAN92359/" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=9822">
|
||
<span>OMA Browser: Orthologous MAtrix</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="free-rsc"></span>OrthoDB catalog of orthologs</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="https://www.orthodb.org/?ncbi=79648" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=8178">
|
||
<span>Orthologs</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="free-rsc"></span>Pharmacogenomics Knowledge Base</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="https://www.pharmgkb.org/gene/PA30701" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=4067">
|
||
<span>Annotated Pharmacogenomic Information for MCPH1 [PharmGKB]</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="free-rsc"></span>PhosphoSitePlus</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="https://www.phosphosite.org/entrezGeneIdAction.action?id=79648" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=7987">
|
||
<span>PhosphoSitePlus® - comprehensive post-translational modification resource</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="free-rsc"></span>The Weizmann Institute of Science GeneCards and MalaCards databases</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=MCPH1" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=8598">
|
||
<span>GeneCard for MCPH1</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
</ul>
|
||
</div>
|
||
<div class="linkout">
|
||
<a class="jig-ncbitoggler-open main">
|
||
<span>Research Materials</span>
|
||
</a>
|
||
<ul>
|
||
<li><span class="order-rsc"></span>Addgene Non-profit plasmid repository</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="https://addgene.org//browse/gene/79648" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=5304">
|
||
<span>Get Plasmids - Addgene</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="order-rsc"></span>Bio-Techne</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="https://www.bio-techne.com/t/mcph1/proteins-enzymes?utm_source=linkout&utm_medium=referral&utm_campaign=product&utm_term=proteins" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=8242">
|
||
<span>MCPH1 Proteins</span>
|
||
</a>
|
||
</li>
|
||
<li>
|
||
<a target="_blank" href="https://www.bio-techne.com/t/mcph1/antibodies?utm_source=linkout&utm_medium=referral&utm_campaign=product&utm_term=antibodies" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=8242">
|
||
<span>MCPH1 Antibodies</span>
|
||
</a>
|
||
</li>
|
||
<li>
|
||
<a target="_blank" href="https://www.bio-techne.com/t/mcph1/lysates?utm_source=linkout&utm_medium=referral&utm_campaign=product&utm_term=lysates" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=8242">
|
||
<span>MCPH1 Lysates</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="order-rsc"></span>Creative Biogene</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="https://www.creative-biogene.com/genesearch/MCPH1.html" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=10094">
|
||
<span>microcephalin 1</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li>ExactAntigen/Labome</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="https://www.labome.com/gene/human/MCPH1-antibody.html" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=5753">
|
||
<span>reagents</span>
|
||
</a>
|
||
</li>
|
||
<li>
|
||
<a target="_blank" href="https://www.labome.com/review/gene/human/MCPH1-antibody.html" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=5753">
|
||
<span>reagent review</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="order-rsc"></span>GenScript latest version of gene cDNA ORF Clone</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="http://www.genscript.com/gene/79648" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=8012">
|
||
<span>GenScript latest version of gene cDNA ORF Clone</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="order-rsc"></span>GeneCopoeia Inc.</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="https://www.genecopoeia.com/product/search/result.php?prt=26&field=5&key=79648" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=7255">
|
||
<span>Order TALEN/CRISPR clones</span>
|
||
</a>
|
||
</li>
|
||
<li>
|
||
<a target="_blank" href="https://www.genecopoeia.com/product/search/result.php?tax_id=9606&field=5&prt=16&key=79648" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=7255">
|
||
<span>Order miRNA target clones</span>
|
||
</a>
|
||
</li>
|
||
<li>
|
||
<a target="_blank" href="https://www.genecopoeia.com/product/search/result.php?prt=1&field=5&key=79648" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=7255">
|
||
<span>Order full-length ORF clone</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="order-rsc"></span>OriGene</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="https://www.origene.com/search?q=Mcph1" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=7994">
|
||
<span>Order Mcph1 cDNA clone/Protein/Antibody/RNAi</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
</ul>
|
||
</div>
|
||
<div class="linkout">
|
||
<a class="jig-ncbitoggler-open main">
|
||
<span>Tools</span>
|
||
</a>
|
||
<ul>
|
||
<li><span class="free-rsc"></span>GeneMANIA</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="http://genemania.org/link?o=9606&g=79648" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=7529">
|
||
<span>GeneMANIA</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
</ul>
|
||
</div>
|
||
<div class="linkout">
|
||
<a class="jig-ncbitoggler-open">
|
||
<span>Miscellaneous</span>
|
||
</a>
|
||
<ul>
|
||
<li><span class="free-rsc"></span>Reactome</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="https://reactome.org/PathwayBrowser/#/R-HSA-1640170" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=4914">
|
||
<span>Reactome Event:Cell Cycle</span>
|
||
</a>
|
||
</li>
|
||
<li>
|
||
<a target="_blank" href="https://reactome.org/content/query?q=UniProt:Q8NEM0" ref="itool=Gene_FullReport&uid=79648&nlmid=&db=gene&log$=linkoutlink&PrId=4914">
|
||
<span>Reactome Entity:Q8NEM0</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="urls-in-genombrowser" style="display:none">
|
||
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div><input type="hidden" class="section_status_input" name="status_checked" id="status_checked" value="" /><input type="hidden" class="section_status_input" name="status_open" id="status_open" value="summary,region,context,bibliography,phenotypes,variation,hiv,interactions,pathways,geneInfo,proteinInfo,refSeq,related,links" /><input type="hidden" class="section_status_input" name="status_exist" id="status_exist" value="summary,context,region,expression,bibliography,phenotypes,variation,,interactions,geneInfo,proteinInfo,refSeq,related,links" /><input type="hidden" class="section_status_input" name="status_closed" id="status_closed" value="" /><meta name="status_checked" content="" class="meta_section_status" /><meta name="status_open" content="summary,region,context,bibliography,phenotypes,variation,hiv,interactions,pathways,geneInfo,proteinInfo,refSeq,related,links" class="meta_section_status" /><meta name="status_exist" content="summary,context,region,expression,bibliography,phenotypes,variation,,interactions,geneInfo,proteinInfo,refSeq,related,links" class="meta_section_status" /><meta name="status_closed" content="" class="meta_section_status" /><script type="text/javascript">
|
||
|
||
var section_status_meta = {
|
||
'status_checked': '',
|
||
'status_open': 'summary,region,context,bibliography,phenotypes,variation,hiv,interactions,pathways,geneInfo,proteinInfo,refSeq,related,links',
|
||
'status_exist': 'summary,context,region,expression,bibliography,phenotypes,variation,,interactions,geneInfo,proteinInfo,refSeq,related,links',
|
||
'status_closed': ''
|
||
};
|
||
|
||
|
||
/*
|
||
for (var o in section_status_meta) {
|
||
var meta=document.createElement('meta');
|
||
meta.name = o;
|
||
meta.content = section_status_meta[o];
|
||
var attr = document.createAttribute('data-ignore-limit');
|
||
attr.value = 'true';
|
||
meta.setAttributeNode(attr);
|
||
document.getElementsByTagName('head')[0].appendChild(meta);
|
||
}
|
||
*/
|
||
|
||
|
||
var __ncbi_sg_pingCallbacks_render_gene = function (data, evtObj, type) {
|
||
// data looks like {jsevent: "click", "link_id": "foo", ...}
|
||
// evtObj is the JS event object
|
||
// type is either "stat" (for applog) or "ga"
|
||
var extraData = {};
|
||
if (type == "stat") {
|
||
for (var o in section_status_meta) {
|
||
extraData[o] = section_status_meta[o];
|
||
}
|
||
|
||
return extraData;
|
||
|
||
}
|
||
}
|
||
|
||
|
||
</script></div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last" id="sidebar_tabular">
|
||
<!-- sidebar close/hide button-->
|
||
<div class="ui-helper-clearfix">
|
||
<a href="#" id="sidecontent_2_pullout" style="float:right;" class="sidecontentpullout_local collapse_button"><span>Hide sidebar >></span></a>
|
||
</div>
|
||
<!-- end sidebar close/hide button-->
|
||
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div id="gene-sidebar">
|
||
<div>
|
||
<div class="portlet brieflink dis-table-of-contents">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Table of contents</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_RightColumn.Gene_TableOfContents.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Gene_TableOfContents" id="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_RightColumn.Gene_TableOfContents.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li class="">
|
||
<a href="#summary">Summary</a>
|
||
</li>
|
||
<li class="">
|
||
<a href="#genomic-context">Genomic context</a>
|
||
</li>
|
||
<li class="">
|
||
<a href="#genomic-regions-transcripts-products">Genomic regions, transcripts, and products</a>
|
||
</li>
|
||
<li class="">
|
||
<a href="#gene-expression">Expression</a>
|
||
</li>
|
||
<li class="">
|
||
<a href="#bibliography">Bibliography</a>
|
||
</li>
|
||
<li class="">
|
||
<a href="#phenotypes">Phenotypes</a>
|
||
</li>
|
||
<li class="">
|
||
<a href="#variation">Variation</a>
|
||
</li>
|
||
<li class="">
|
||
<a href="#pathways">Pathways from PubChem</a>
|
||
</li>
|
||
<li class="">
|
||
<a href="#interactions">Interactions</a>
|
||
</li>
|
||
<li class="">
|
||
<a href="#general-gene-info">General gene information</a>
|
||
<div class="subsection-links"><a href="#gene-markers">Markers</a>, <a href="#CloneNames">Clone Names</a>, <a href="#homology">Homology</a>, <a href="#gene-ontology">Gene Ontology</a></div>
|
||
</li>
|
||
<li class="">
|
||
<a href="#general-protein-info">General protein information</a>
|
||
</li>
|
||
<li class="">
|
||
<a href="#reference-sequences">NCBI Reference Sequences (RefSeq)</a>
|
||
</li>
|
||
<li class="">
|
||
<a href="#related-sequences">Related sequences</a>
|
||
</li>
|
||
<li class="">
|
||
<a href="#additional-links">Additional links</a>
|
||
<div class="subsection-links">
|
||
<a href="#lsdb">Locus-specific Databases</a>
|
||
</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="portlet brieflink dis-genomesbrowser brieflink dis-genomesbrowser">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Genome Browsers</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_RightColumn.Gene_GenomeBrowsers.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Gene_GenomeBrowsers" id="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_RightColumn.Gene_GenomeBrowsers.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="#">Loading...</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="portlet dis-related-info brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_RightColumn.Gene_RelatedInformation.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_RightColumn.Gene_RelatedInformation.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clone/order/gene/79648" ref="log$=recordlinks">Order cDNA clone</a>
|
||
<div class="brieflinkpop offscreen_noflow">Order cDNA clone</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/structure?LinkName=gene_structure&from_uid=79648" ref="log$=recordlinks">3D structures</a>
|
||
<div class="brieflinkpop offscreen_noflow">3D structure of a gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pcassay?LinkName=gene_pcassay_alltarget_list&from_uid=79648" ref="log$=recordlinks">BioAssay by Target (List)</a>
|
||
<div class="brieflinkpop offscreen_noflow">BioAssays related to the gene by protein target or RNAi target</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="//pubchem.ncbi.nlm.nih.gov/assay/bioactivity.html?geneid=79648" ref="log$=recordlinks">BioAssay by Target (Summary)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Summarized PubChem Data on the gene, showing the active data by default</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pcassay?LinkName=gene_pcassay_target&from_uid=79648" ref="log$=recordlinks">BioAssay, by Gene target</a>
|
||
<div class="brieflinkpop offscreen_noflow">PubChem BioAssays done on the Gene target</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pcassay?LinkName=gene_pcassay_rnai_active&from_uid=79648" ref="log$=recordlinks">BioAssays, RNAi Target, Active</a>
|
||
<div class="brieflinkpop offscreen_noflow">BioAssays that contain the gene as the target of a RNAi reagent, which is identified as a hit in a RNAi screening and flagged as "active" in the corresponding BioAssay record</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pcassay?LinkName=gene_pcassay_rnai&from_uid=79648" ref="log$=recordlinks">BioAssays, RNAi Target, Tested</a>
|
||
<div class="brieflinkpop offscreen_noflow">BioAssays that contain the gene as the target of a RNAi reagent</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/bioproject?LinkName=gene_bioproject&from_uid=79648" ref="log$=recordlinks">BioProjects</a>
|
||
<div class="brieflinkpop offscreen_noflow">BioProjects related to a gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/biosystems?LinkName=gene_biosystems&from_uid=79648" ref="log$=recordlinks">BioSystems</a>
|
||
<div class="brieflinkpop offscreen_noflow">BioSystems</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/CCDS/CcdsBrowse.cgi?REQUEST=GENEID&DATA=79648" ref="log$=recordlinks">CCDS</a>
|
||
<div class="brieflinkpop offscreen_noflow">Link to CCDS</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=gene_clinvar&from_uid=79648" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/cdd?LinkName=gene_cdd&from_uid=79648" ref="log$=recordlinks">Conserved Domains</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related CDD</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/dbvar?LinkName=gene_dbvar&from_uid=79648" ref="log$=recordlinks">dbVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Link from Gene to dbVar</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=gene_pmc&from_uid=79648" ref="log$=recordlinks">Full text in PMC</a>
|
||
<div class="brieflinkpop offscreen_noflow">PMC links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=gene_pmc_nucleotide&from_uid=79648" ref="log$=recordlinks">Full text in PMC_nucleotide</a>
|
||
<div class="brieflinkpop offscreen_noflow">Full text in PubMedCentral identified from shared sequence links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/sparcle?LinkName=gene_sparcle&from_uid=79648" ref="log$=recordlinks">Functional Class</a>
|
||
<div class="brieflinkpop offscreen_noflow">Functional class of the sequence domain architecture</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=gene_gene_neighbors&from_uid=79648" ref="log$=recordlinks">Gene neighbors</a>
|
||
<div class="brieflinkpop offscreen_noflow">Overlapping genes and two nearest non-overlapping genes on either side</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=gene_gene_h3k4me3&from_uid=79648" ref="log$=recordlinks">Genes with a similar H3K4me3 profile</a>
|
||
<div class="brieflinkpop offscreen_noflow">Genes with a similar profile of promoter-activating H3K4me3 modifications across several tissue types</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/genome?LinkName=gene_genome&from_uid=79648" ref="log$=recordlinks">Genome</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Genome</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/geoprofiles?LinkName=gene_geoprofiles&from_uid=79648" ref="log$=recordlinks">GEO Profiles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related GEO</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests/?term=79648[geneid]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Tests for this gene in the NIH Genetic Testing Registry</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/homologene?LinkName=gene_homologene&from_uid=79648" ref="log$=recordlinks">HomoloGene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related HomoloGene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/medgen?LinkName=gene_medgen_diseases&from_uid=79648" ref="log$=recordlinks">MedGen</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/nuccore?LinkName=gene_nuccore&from_uid=79648" ref="log$=recordlinks">Nucleotide</a>
|
||
<div class="brieflinkpop offscreen_noflow">Link to related Nucleotide entry</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=gene_omim&from_uid=79648" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Link to related OMIM entry</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/probe?LinkName=gene_probe&from_uid=79648" ref="log$=recordlinks">Probe</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Probe entry</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/protein?LinkName=gene_protein&from_uid=79648" ref="log$=recordlinks">Protein</a>
|
||
<div class="brieflinkpop offscreen_noflow">Link to related protein entry</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pccompound?LinkName=gene_pccompound&from_uid=79648" ref="log$=recordlinks">PubChem Compound</a>
|
||
<div class="brieflinkpop offscreen_noflow">PubChem Compounds</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pcsubstance?LinkName=gene_pcsubstance&from_uid=79648" ref="log$=recordlinks">PubChem Substance</a>
|
||
<div class="brieflinkpop offscreen_noflow">PubChem Substances</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=gene_pubmed&from_uid=79648" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Link to related PubMed entry</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=gene_pubmed_rif&from_uid=79648" ref="log$=recordlinks">PubMed (GeneRIF)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Link to related PubMed article from GeneRIFs</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=gene_pubmed_citedinomim&from_uid=79648" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Gene links to PubMed derived from omim_pubmed_cited links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=gene_pubmed_pmc_nucleotide&from_uid=79648" ref="log$=recordlinks">PubMed(nucleotide/PMC)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Citations in PubMed identified from shared sequence and PMC links.</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/protein?LinkName=gene_protein_refseq&from_uid=79648" ref="log$=recordlinks">RefSeq Proteins</a>
|
||
<div class="brieflinkpop offscreen_noflow">Link to Protein RefSeqs</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/nuccore?LinkName=gene_nuccore_refseqrna&from_uid=79648" ref="log$=recordlinks">RefSeq RNAs</a>
|
||
<div class="brieflinkpop offscreen_noflow">Link to Nucleotide RefSeq RNAs</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/nuccore/2302520038?report=graph" ref="log$=recordlinks">RefSeqGene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Link to Nucleotide RefSeqGenes</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=gene_clinvar_specific&from_uid=79648" ref="log$=recordlinks">Related gene-specific medical variations</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/snp?LinkName=gene_snp&from_uid=79648" ref="log$=recordlinks">SNP</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related SNP records</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/taxonomy?LinkName=gene_taxonomy&from_uid=79648" ref="log$=recordlinks">Taxonomy</a>
|
||
<div class="brieflinkpop offscreen_noflow">Link to related taxonomy entry</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/variation/view/?q=79648[geneid]" ref="log$=recordlinks">Variation Viewer</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Variants</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="portlet dis-links-to-other-res brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Links to other resources</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_RightColumn.Gene_LinksTwo.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Gene_LinksTwo" id="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_RightColumn.Gene_LinksTwo.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6954">HGNC</a>
|
||
</li>
|
||
<li>
|
||
<a href="http://www.ensembl.org/id/ENSG00000147316">Ensembl</a>
|
||
</li>
|
||
<li>
|
||
<a href="https://www.alliancegenome.org/gene/HGNC:6954">AllianceGenome</a>
|
||
</li>
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?c=geneid&org=9606&l=79648">AceView</a>
|
||
</li>
|
||
<li>
|
||
<a href="https://www.lovd.nl/MCPH1">MCPH1 @ LOVD</a>
|
||
</li>
|
||
<li>
|
||
<a href="http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NM_001322042">UCSC</a>
|
||
</li>
|
||
<li>
|
||
<a href="https://genecollections.nci.nih.gov/MGC/?ORG=Hs&LIST=BC030702">MGC</a>
|
||
</li>
|
||
<li>
|
||
<a href="https://phgkb.cdc.gov/PHGKB/huGEPedia.action?firstQuery=MCPH1&geneID=79648&typeOption=gene&which=2&pubOrderType=pubD&typeSubmit=GO&check=y">HuGE Navigator</a>
|
||
</li>
|
||
<li>
|
||
<a href="http://www.genome.jp/dbget-bin/www_bget?hsa:79648">KEGG</a>
|
||
</li>
|
||
<li>
|
||
<a href="https://reactome.org/content/query?q=UniProt:Q8NEM0">Reactome</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="portlet brieflink dis-general-info">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>General information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_RightColumn.Gene_GeneralInfo.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Gene_GeneralInfo" id="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_RightColumn.Gene_GeneralInfo.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pmc/?term=PMC4383897+OR+PMC3013746+OR+PMC1761442+OR+PMC539985">About Gene</a>
|
||
</li>
|
||
<li>
|
||
<a href="/books/NBK3840">FAQ</a>
|
||
</li>
|
||
<li>
|
||
<a href="https://ftp.ncbi.nlm.nih.gov/gene/">FTP site</a>
|
||
</li>
|
||
<li>
|
||
<a href="/books/NBK3841/">Help</a>
|
||
</li>
|
||
<li>
|
||
<a href="/books/NBK3842/">My NCBI help</a>
|
||
</li>
|
||
<li>
|
||
<a href="/books/NBK21085/">NCBI Handbook</a>
|
||
</li>
|
||
<li>
|
||
<a href="/gene/statistics/">Statistics</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="portlet brieflink dis-related-sites">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related sites</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_RightColumn.Gene_RelatedSites.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Gene_RelatedSites" id="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_RightColumn.Gene_RelatedSites.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/BLAST">BLAST</a>
|
||
</li>
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/genome">Genome</a>
|
||
</li>
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/bioproject">BioProject</a>
|
||
</li>
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/genome/gdv/">Genome Data Viewer</a>
|
||
</li>
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/geo">GEO</a>
|
||
</li>
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/omim">OMIM</a>
|
||
</li>
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/probe">Probe</a>
|
||
</li>
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/RefSeq">RefSeq</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="portlet brieflink dis-feedback">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Feedback</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_RightColumn.Gene_Feedback.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Gene_Feedback" id="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_RightColumn.Gene_Feedback.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="https://support.ncbi.nlm.nih.gov/ics/support/ticketnewwizard.asp?style=classic&deptID=28049">Contact Help Desk</a>
|
||
</li>
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/RefSeq/update.cgi?geneid=79648&symbol=MCPH1">Submit Correction</a>
|
||
</li>
|
||
<li>
|
||
<a href="/gene/submit-generif?geneId=79648&sym=MCPH1&name=microcephalin 1&org=Homo sapiens">Submit GeneRIF</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="portlet brieflink dis-subscription">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Subscription</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_RightColumn.Gene_Subscription.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Gene_Subscription" id="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_RightColumn.Gene_Subscription.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/mailman/listinfo/refseq-announce">RefSeq</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<!-- <component id="Gene_RVFullReport.Gene_RightColMenuLinks"/>-->
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.HistoryDisplay.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<a name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d519cd2f30673f7be51e97">MCPH1 microcephalin 1 [Homo sapiens]</a>
|
||
<div class="ralinkpop offscreen_noflow">MCPH1 microcephalin 1 [Homo sapiens]<div class="brieflinkpopdesc">Gene ID:79648</div></div>
|
||
<div class="tertiary">Gene</div>
|
||
</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d519bc84f3725e5926023f">Potocki-Lupski Syndrome - GeneReviews®</a>
|
||
<div class="ralinkpop offscreen_noflow">Potocki-Lupski Syndrome - GeneReviews®<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary"></div>
|
||
</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d519bbcde49f3df7c78be2">Table B. [OMIM Entries for Potocki-Lupski Syndrome (View All in OMIM)]. - GeneRe...</a>
|
||
<div class="ralinkpop offscreen_noflow">Table B. [OMIM Entries for Potocki-Lupski Syndrome (View All in OMIM)]. - GeneReviews®<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary"></div>
|
||
</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d519ac67c23b31e09edcb3">RecName: Full=Retinoic acid-induced protein 1</a>
|
||
<div class="ralinkpop offscreen_noflow">RecName: Full=Retinoic acid-induced protein 1<div class="brieflinkpopdesc">gi|50400978|sp|Q7Z5J4.2|RAI1_HUMAN</div></div>
|
||
<div class="tertiary">Protein</div>
|
||
</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d519a084f3725e59257956">Smith-Magenis Syndrome - GeneReviews®</a>
|
||
<div class="ralinkpop offscreen_noflow">Smith-Magenis Syndrome - GeneReviews®<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary"></div>
|
||
</li>
|
||
</ul>
|
||
<p class="HTOn">Your browsing activity is empty.</p>
|
||
<p class="HTOff">Activity recording is turned off.</p>
|
||
<p id="turnOn" class="HTOff">
|
||
<a name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.HistoryDisplay.HistoryOn" sid="1" realname="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.HistoryDisplay.HistoryOn" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.HistoryDisplay.HistoryOn">Turn recording back on</a>
|
||
</p>
|
||
<a class="seemore" href="/sites/myncbi/recentactivity">See more...</a>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div id="NCBIFooter_dynamic">
|
||
<!--<component id="NCBIBreadcrumbs"/>
|
||
<component id="NCBIHelpDesk"/>-->
|
||
<noscript><img alt="" src="/stat?jsdisabled=true&ncbi_app=entrez&ncbi_db=gene&ncbi_pdid=full_report&ncbi_phid=CE8883FA7D5028C10000000000680064" /></noscript>
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</div>
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<div xmlns="http://www.w3.org/1999/xhtml" class="footer" id="footer" xml:base="http://127.0.0.1/sites/static/header_footer/">
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<section class="icon-section">
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<div id="icon-section-header" class="icon-section_header">Follow NCBI</div>
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<div class="grid-container container">
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<div class="icon-section_container">
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<a class="footer-icon" id="footer_twitter" href="https://twitter.com/ncbi" aria-label="Twitter">
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<g id="twitterx1008">
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<a class="footer-icon" id="footer_facebook" href="https://www.facebook.com/ncbi.nlm" aria-label="Facebook"><svg xmlns="http://www.w3.org/2000/svg" data-name="Layer 1" viewBox="0 0 300 300">
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<path class="cls-11" d="M210.5,115.12H171.74V97.82c0-8.14,5.39-10,9.19-10h27.14V52l-39.32-.12c-35.66,0-42.42,26.68-42.42,43.77v19.48H99.09v36.32h27.24v109h45.41v-109h35Z">
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<a class="footer-icon" id="footer_linkedin" href="https://www.linkedin.com/company/ncbinlm" aria-label="LinkedIn"><svg xmlns="http://www.w3.org/2000/svg" data-name="Layer 1" viewBox="0 0 300 300">
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<path class="cls-11" d="M101.64,243.37H57.79v-114h43.85Zm-22-131.54h-.26c-13.25,0-21.82-10.36-21.82-21.76,0-11.65,8.84-21.15,22.33-21.15S101.7,78.72,102,90.38C102,101.77,93.4,111.83,79.63,111.83Zm100.93,52.61A17.54,17.54,0,0,0,163,182v61.39H119.18s.51-105.23,0-114H163v13a54.33,54.33,0,0,1,34.54-12.66c26,0,44.39,18.8,44.39,55.29v58.35H198.1V182A17.54,17.54,0,0,0,180.56,164.44Z">
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